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    1. Hernandez, OM; Housmans, PR; Potter, JD
      Plasticity in skeletal cardiac, and smooth muscle - Invited review: Pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation

      JOURNAL OF APPLIED PHYSIOLOGY
    2. Pras, E; Pras, E; Bakhan, T; Levy-Nissenbaum, E; Lahat, H; Assia, EI; Garzozi, HJ; Kastner, DL; Goldman, B; Frydman, M
      A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    3. Radu, P; Atsmon, J
      Gilbert's syndrome - Clinical and pharmacological implications

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    4. Meyer, D; Fressinaud, E; Hilbert, L; Ribba, AS; Lavergne, JM; Mazurier, C
      Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    5. Owen, K; Hattersley, AT
      Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    6. Watkins, H
      Hypertrophic cardiomyopathy: from molecular and genetic mechanisms to clinical management

      EUROPEAN HEART JOURNAL SUPPLEMENTS
    7. Schulze-Bahr, E; Haverkamp, W; Eckardt, L; Kirchhof, P; Wedekind, H; Breithardt, G
      Genetic aspects in acquired long QT syndrome - a piece in the puzzle

      EUROPEAN HEART JOURNAL SUPPLEMENTS
    8. Hegele, RA
      Molecular basis of partial lipodystrophy and prospects for therapy

      TRENDS IN MOLECULAR MEDICINE
    9. Andersson, L
      Genetic dissection of phenotypic diversity in farm animals

      NATURE REVIEWS GENETICS
    10. Chen, FS; Yu, G; Arawaka, S; Nishimura, M; Kawarai, T; Yu, H; Tandon, A; Supala, A; Song, YQ; Rogaeva, E; Milman, P; Sato, C; Yu, C; Janus, C; Lee, J; Song, LX; Zhang, LL; Fraser, PE; St George-Hyslop, PH
      Nicastrin binds to membrane tethered Notch

      NATURE CELL BIOLOGY
    11. De Strooper, B; Annaert, W
      Presenilins and the intramembrane proteolysis of proteins: facts and fiction

      NATURE CELL BIOLOGY
    12. Yamada, Y; Ichihara, S; Izawa, H; Tanaka, M; Yokota, M
      Association of a G(994) -> T (Val(279) -> Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy

      JOURNAL OF HUMAN GENETICS
    13. Hara, M; Wang, XY; Paz, VP; Iwasaki, N; Honda, M; Iwamoto, Y; Bell, GI
      Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young

      JOURNAL OF HUMAN GENETICS
    14. Hirai, H; Nakajima, S; Miyauchi, A; Nishimura, K; Shimizu, N; Shima, M; Michigami, T; Ozono, K; Okada, S
      A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia

      JOURNAL OF HUMAN GENETICS
    15. Kowalska, A; Asada, T; Arima, K; Kumakiri, C; Kozubski, W; Takahashi, K; Tabira, T
      Genetic analysis in patients with familial and sporadic frontotemporal dementia: Two tau mutations in only familial cases and no association with apolipoprotein epsilon 4

      DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
    16. Robinson, PN; Booms, P
      The molecular pathogenesis of the Marfan syndrome

      CELLULAR AND MOLECULAR LIFE SCIENCES
    17. Huse, JT; Doms, RW
      Neurotoxic traffic: Uncovering the mechanics of amyloid production in Alzheimer's disease

      TRAFFIC
    18. Burke, B; Mounkes, LC; Stewart, C
      The nuclear envelope in muscular dystrophy and cardiovascular diseases

      TRAFFIC
    19. Riise, R; Storhaug, K; Brondum-Nielsen, K
      Rieger syndrome is associated with PAX6 deletion

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    20. Zubenko, GS; Hughes, HB; Stiffler, JS
      D10S1423 identifies a susceptibility locus for Alzheimer's disease in a prospective, longitudinal, double-blind study of asymptomatic individuals

      MOLECULAR PSYCHIATRY
    21. Rice, SR; Niu, N; Berman, DB; Heston, LL; Sobell, JL
      Identification of single nucleotide polymorphisms (SNPs) and other sequence changes and estimation of nucleotide diversity in coding and flanking regions of the NMDAR1 receptor gene in schizophrenic patients

      MOLECULAR PSYCHIATRY
    22. Vink, T; Hinney, A; van Elburg, AA; van Goozen, SHM; Sandkuijl, LA; Sinke, RJ; Herpertz-Dahlmann, BM; Hebebrand, J; Remschmidt, H; van Engeland, H; Adan, RAH
      Association between an agouti-related protein gene polymorphism and anorexia nervosa

      MOLECULAR PSYCHIATRY
    23. Shamim, W; Yousufuddin, M; Francis, DP; Gualdiero, P; Honour, JW; Anker, SD; Coats, AJS
      Raised urinary glucocorticoid and adrenal androgen precursors in the urineof young hypertensive patients: possible evidence for partial glucocorticoid resistance

      HEART
    24. Jhee, S; Shiovitz, T; Crawford, AW; Cutler, NR
      beta-amyloid therapies in Alzheimer's disease

      EXPERT OPINION ON INVESTIGATIONAL DRUGS
    25. Zeviani, M; Klopstock, T
      Mitochondrial disorders

      CURRENT OPINION IN NEUROLOGY
    26. Haider, MZ; Devarajan, LV; Al-Essa, M; Srivastva, BS; Kumar, H; Azad, R; Rashwan, N
      Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages

      PEDIATRICS INTERNATIONAL
    27. Kuster, T; Happle, R; Hoffmann, R; Freyschmidt-Paul, P
      Guess what! Atrichia with papular lesions

      EUROPEAN JOURNAL OF DERMATOLOGY
    28. Palau, F
      Friedreich's ataxia and frataxin: Molecular genetics, evolution and pathogenesis (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    29. Pusch, CM; Maurer, J; Ramser, J; Tomiuk, J; Achatz, H; Pesch, K; Lichtner, P; Apfelstedt-Sylla, E; Jacobi, FK; Berger, W; Meindl, A; Wissinger, B
      Complete form of X-linked congenital stationary night blindness: Refined mapping and evidence of genetic homogeneity

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    30. Lahjouji, K; Mitchell, GA; Qureshi, IA
      Carnitine transport by organic cation transporters and systemic carnitine deficiency

      MOLECULAR GENETICS AND METABOLISM
    31. Waters, PJ; Scriver, CR; Parniak, MA
      Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: Evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia

      MOLECULAR GENETICS AND METABOLISM
    32. Gjetting, T; Romstad, A; Haavik, J; Knappskog, PM; Acosta, AX; Silva, WA; Zago, MA; Guldberg, P; Guttler, F
      A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics

      MOLECULAR GENETICS AND METABOLISM
    33. Westphal, V; Enns, GM; McCracken, MF; Freeze, HH
      Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry

      MOLECULAR GENETICS AND METABOLISM
    34. Gjetting, T; Petersen, M; Guldberg, P; Guttler, F
      In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: Correlation with metabolic phenotypes and susceptibility toward protein aggregation

      MOLECULAR GENETICS AND METABOLISM
    35. Prescott, SM; McIntyre, TM; Zimmerman, GA
      Events at the vascular wall: The molecular basis of inflammation

      JOURNAL OF INVESTIGATIVE MEDICINE
    36. Heyworth, PG; Curnutte, JT; Rae, J; Noack, D; Roos, D; van Koppen, E; Cross, AR
      Hematologically important mutations: X-linked chronic granulomatous disease (Second update)

      BLOOD CELLS MOLECULES AND DISEASES
    37. Nagano, M; Yamashita, S; Hirano, K; Kujiraoka, T; Ito, M; Sagehashi, Y; Hattori, H; Nakajima, N; Maruyama, T; Sakai, N; Egashira, T; Matsuzawa, Y
      Point mutation (-69 G -> A) in the promoter region of cholesteryl ester transfer protein gene in Japanese hyperalphalipoproteinemic subjects

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    38. Fraunberg, MVZ; Tenhunen, R; Kauppinen, R
      Expression and characterization of six mutations in the protoporphyrinogenoxidase gene among Finnish variegate porphyria patients

      MOLECULAR MEDICINE
    39. Fuchs, S; Amiel, J; Claudel, S; Lyonnet, S; Corvol, P; Pinet, F
      Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: Evidence for selective lossof G(i) coupling

      MOLECULAR MEDICINE
    40. Kanelis, V; Rotin, D; Forman-Kay, JD
      Solution structure of a Nedd4 WW domain-ENaC peptide complex

      NATURE STRUCTURAL BIOLOGY
    41. Jakobs, PM; Hanson, EL; Crispell, KA; Toy, W; Keegan, H; Schilling, K; Icenogle, TB; Litt, M; Hershberger, RE
      Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

      JOURNAL OF CARDIAC FAILURE
    42. Sklar, P
      The genomic approach to candidate genes

      HARVARD REVIEW OF PSYCHIATRY
    43. Kyuma, M; Ura, N; Torii, T; Takeuchi, H; Takizawa, H; Kitamura, K; Tomita, K; Sasaki, S; Shimamoto, K
      A family with Liddle's syndrome caused by a mutation in the beta subunit of the epithelial sodium channel

      CLINICAL AND EXPERIMENTAL HYPERTENSION
    44. Goudeau, B; Dagvadorj, A; Rodrigues-Lima, F; Nedellec, P; Casteras-Simon, M; Perret, E; Langlois, S; Goldfarb, L; Vicart, P
      Structural and functional analysis of a new desmin variant causing desmin-related myopathy

      HUMAN MUTATION
    45. Weller, S; Gartner, J
      Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene

      HUMAN MUTATION
    46. Mostacciuolo, ML; Righetti, E; Zortea, M; Bosello, V; Schiavon, F; Vallo, L; Merlini, L; Siciliano, G; Fabrizi, GM; Rizzuto, N; Milani, M; Baratta, S; Taroni, F
      Charcot-Marie-Tooth disease type I and related demyelinating neuropathies:Mutation analysis in a large cohort of Italian families

      HUMAN MUTATION
    47. Dvorakova, L; Storkanova, G; Unterrainer, G; Hujova, J; Kmoch, S; Zeman, J; Hrebicek, M; Berger, J
      Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acidexchange

      HUMAN MUTATION
    48. Wang, Z; Moult, J
      SNPs, protein structure, and disease

      HUMAN MUTATION
    49. Edwards, SM; Kote-Jarai, Z; Hamoudi, R; Eeles, RA
      An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations - Fluorescent mutation detection (F-MD)

      HUMAN MUTATION
    50. Delaunoy, JP; Abidi, F; Zeniou, M; Jacquot, S; Merienne, K; Pannetier, S; Schmitt, M; Schwartz, CE; Hanauer, A
      Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

      HUMAN MUTATION
    51. McVey, JH; Boswell, E; Mumford, AD; Kemball-Cook, G; Tuddenham, EGD
      Factor VII deficiency and the FVII mutation database

      HUMAN MUTATION
    52. Ikehara, Y; Nishihara, S; Yasutomi, H; Kitamura, T; Matsuo, K; Shimizu, N; Inada, KI; Kodera, Y; Yamamura, Y; Narimatsu, H; Hamajima, N; Tatematsu, M
      Polymorphisms of two fucosyltransferase genes (Lewis and Secretor genes) involving type I Lewis antigens are associated with the presence of anti-Helicobacter pylori IgG antibody

      CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
    53. Lindgren, CM; Hirschhorn, JN
      The genetics of type 2 diabetes

      ENDOCRINOLOGIST
    54. Mounkes, LC; Burke, B; Stewart, CL
      The A-type lamins - Nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases

      TRENDS IN CARDIOVASCULAR MEDICINE
    55. Knollmann, BC; Potter, JD
      Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy

      TRENDS IN CARDIOVASCULAR MEDICINE
    56. Barendse, W; Armitage, SM
      The single strand conformational analysis of cattle and human single nucleotide polymorphisms may be biased towards specific sequence motifs that minimize local secondary structure of single strand dna

      ANIMAL BIOTECHNOLOGY
    57. Kubota, T; Horie, M; Takano, M; Yoshida, H; Takenaka, K; Watanabe, E; Tsuchiya, T; Otani, H; Sasayama, S
      Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias

      JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
    58. Gillam, MP; Kopp, P
      Genetic defects in thyroid hormone synthesis

      CURRENT OPINION IN PEDIATRICS
    59. Korovaitseva, GI; Sherbatich, TV; Selezneva, NV; Gavrilova, SI; Golimbet, VE; Voskresenskaya, NI; Rogaev, EI
      Genetic association between the apolipoprotein E (APOE) gene and differentforms of Alzheimer's disease

      RUSSIAN JOURNAL OF GENETICS
    60. Scheffer, H; Cobben, JM; Matthijs, G; Wirth, B
      Best practice guidelines for molecular analysis in spinal muscular atrophy

      EUROPEAN JOURNAL OF HUMAN GENETICS
    61. Legros, F; Chatzoglou, E; Frachon, P; de Baulny, HO; Laforet, P; Jardel, C; Godinot, C; Lombes, A
      Functional characterization of novel mutations in the human cytochrome b gene

      EUROPEAN JOURNAL OF HUMAN GENETICS
    62. Prince, JA; Feuk, L; Sawyer, SL; Gottfries, J; Ricksten, A; Nagga, K; Bogdanovic, N; Blennow, K; Brookes, AJ
      Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease

      EUROPEAN JOURNAL OF HUMAN GENETICS
    63. Holt, I; Clements, L; Manilal, S; Brown, SC; Morris, GE
      The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

      EUROPEAN JOURNAL OF HUMAN GENETICS
    64. Dos Santos, MR; Vieira, EM; Lima, MR
      Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy

      GENETIC COUNSELING
    65. Heiss, NS; Megarbane, A; Klauck, SM; Kreuz, FR; Makhoul, E; Majewski, F; Poustka, A
      One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC)

      GENETIC COUNSELING
    66. Nathanson, KL; Weber, BL
      'Other' breast cancer susceptibility genes: searching for more holy grail

      HUMAN MOLECULAR GENETICS
    67. Bruder, CEG; Hirvela, C; Tapia-Paez, I; Fransson, I; Segraves, R; Hamilton, G; Zhang, XX; Evans, DG; Wallace, AJ; Baser, ME; Zucman-Rossi, J; Hergersberg, M; Boltshauser, E; Papi, L; Rouleau, GA; Poptodorov, G; Jordanova, A; Rask-Andersen, H; Kluwe, L; Mautner, V; Sainio, M; Hung, G; Mathiesen, T; Moller, C; Pulst, SM; Harder, H; Heiberg, A; Honda, M; Miimura, M; Sahlen, S; Blennow, E; Albertson, DG; Pinkel, D; Dumanski, JP
      High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

      HUMAN MOLECULAR GENETICS
    68. Miller, MP; Kumar, S
      Understanding human disease mutations through the use of interspecific genetic variation

      HUMAN MOLECULAR GENETICS
    69. Aradhya, S; Woffendin, H; Jakins, T; Bardaro, T; Esposito, T; Smahi, A; Shaw, C; Levy, M; Munnich, A; D'Urso, M; Lewis, RA; Kenwrick, S; Nelson, DL
      A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

      HUMAN MOLECULAR GENETICS
    70. De Jonghe, C; Esselens, C; Kumar-Singh, S; Craessaerts, K; Serneels, S; Checler, F; Annaert, W; Van Broeckhoven, C; De Strooper, B
      Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect A beta secretion and APP C-terminal fragment stability

      HUMAN MOLECULAR GENETICS
    71. Cagliani, R; Comi, GP; Tancredi, L; Sironi, M; Fortunato, F; Giorda, R; Bardoni, A; Moggio, M; Prelle, A; Bresolin, N; Scarlato, G
      Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

      NEUROMUSCULAR DISORDERS
    72. Ueyama, H; Kumamoto, T; Nagao, S; Masuda, T; Horinouchi, H; Fujimoto, S; Tsuda, T
      A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy

      NEUROMUSCULAR DISORDERS
    73. Politano, L; Nigro, V; Passamano, L; Petretta, V; Comi, LI; Papparella, S; Nigro, G; Rambaldi, PF; Raia, P; Pini, A; Mora, M; Giugliano, MAM; Esposito, MG; Nigro, G
      Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

      NEUROMUSCULAR DISORDERS
    74. Porter, JD; Merriam, AP; Hack, AA; Andrade, FH; McNally, EM
      Extraocular muscle is spared despite the absence of an intact sarcoglycan complex in gamma- or delta-sarcoglycan-deficient mice

      NEUROMUSCULAR DISORDERS
    75. Olby, NJ; Sharp, NJH; Anderson, LVB; Kunkel, LM; Bonnemann, CG
      Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers

      NEUROMUSCULAR DISORDERS
    76. Tanus-Santos, JE; Desai, M; Flockhart, DA
      Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants

      PHARMACOGENETICS
    77. Stein, CM; Lang, CC; Xie, HG; Wood, AJJ
      Hypertension in black people: study of specific genotypes and phenotypes will provide a greater understanding of interindividual and interethnic variability in blood pressure regulation than studies based on race

      PHARMACOGENETICS
    78. Garcia, ML; Cleveland, DV
      Going new places using an old MAP: tau, microtubules and human neurodegenerative disease

      CURRENT OPINION IN CELL BIOLOGY
    79. Van Vlierberghe, H; Delanghe, JR; De Bie, S; Praet, M; De Paepe, A; Messiaen, L; De Vos, M; Leroux-Roels, G
      Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    80. Ukkola, O; Erkkila, PH; Savolainen, MJ; Kesaniemi, YA
      Lack of association between polymorphisms of catalase, copper-zinc superoxide dismutase (SOD), extracellular SOD and endothelial nitric oxide synthase genes and macroangiopathy in patients with type 2 diabetes mellitus

      JOURNAL OF INTERNAL MEDICINE
    81. Ryffel, GU
      Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences

      JOURNAL OF MOLECULAR ENDOCRINOLOGY
    82. Naka, M; Ozaki, T; Takada, N; Takahashi, M; Shishikura, T; Sakiyama, S; Tada, M; Todo, S; Nakagawara, A
      Functional characterization of naturally occurring mutants (P405R and P425L) of p73 alpha and p73 beta found in neuroblastoma and lung cancer

      ONCOGENE
    83. Evans, D; de Heer, J; Hagemann, C; Wendt, D; Wolf, A; Beisiegel, U; Mann, WA
      Association between the P12A and cl431t polymorphisms in the peroxisome proliferator activated receptor gamma (PPAR gamma) gene and type 2 diabetes

      EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
    84. Chuang, LM; Hsiung, CA; Chen, YDI; Ho, LT; Sheu, WHH; Pei, D; Nakatsuka, CH; Cox, D; Pratt, RE; Lei, HH; Tai, TY
      Sibling-based association study of the PPAR gamma(2) Pro12Ala polymorphismand metabolic variables in Chinese and Japanese hypertension families: a SAPPHIRe study

      JOURNAL OF MOLECULAR MEDICINE-JMM
    85. Strazzullo, P; Iacone, R; Siani, A; Barba, G; Russo, O; Russo, P; Barbato, A; D'Elia, L; Farinaro, E; Cappuccio, FP
      Altered renal sodium handling and hypertension in men carrying the glucagon receptor gene (Gly40Ser) variant

      JOURNAL OF MOLECULAR MEDICINE-JMM
    86. Lajic, S; Robins, T; Krone, N; Schwarz, HP; Wedell, A
      CYP21 mutations in simple virilizing congenital adrenal hyperplasia

      JOURNAL OF MOLECULAR MEDICINE-JMM
    87. Imaizumi, K; Miyoshi, K; Katayama, T; Yoneda, T; Taniguchi, M; Kudo, T; Tohyama, M
      The unfolded protein response and Alzheimer's disease

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    88. Ryoo, YW; Kim, BC; Lee, KS
      Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients

      JOURNAL OF DERMATOLOGICAL SCIENCE
    89. Murakami, T; Iwatsuki, K; Hayashi, T; Sato, K; Matsubara, E; Nagano, I; Manabe, Y; Shoji, M; Abe, K
      Two Japanese CADASIL families with a R141C mutation in the Notch3 gene

      INTERNAL MEDICINE
    90. Tomita, N; Moriguchi, A; Yamasaki, K; Taniyama, Y; Kotani, N; Hashiya, N; Yoshida, M; Yao, M; Higaki, J; Ogihara, T
      A family with Von Hippel-Lindau disease revealed by pheochromocytoma

      Hypertension research
    91. Yamaguchi, K; Arai, Y; Kanda, Y; Akagi, K
      Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanesepopulation in relation to toxicity to 5-fluorouracil

      JAPANESE JOURNAL OF CANCER RESEARCH
    92. Moriwaki, S; Kraemer, KH
      Xeroderma pigmentosum - bridging a gap between clinic and laboratory

      PHOTODERMATOLOGY PHOTOIMMUNOLOGY & PHOTOMEDICINE
    93. Anwar, R; Gallivan, L; Trinh, CH; Hill, FGH; Markham, AF
      Identification of a new Leu354Pro mutation responsible for factor XIII deficiency

      EUROPEAN JOURNAL OF HAEMATOLOGY
    94. Annaert, WG; Esselens, C; Baert, V; Boeve, C; Snellings, G; Cupers, P; Craessaerts, K; De Strooper, B
      Interaction with telencephalin and the amyloid precursor protein predicts a ring structure for presenilins

      NEURON
    95. Bertram, L; Tanzi, RE
      Dancing in the dark? The status of late-onset Alzheimer's disease genetics

      JOURNAL OF MOLECULAR NEUROSCIENCE
    96. Wolfe, MS
      gamma-secretase inhibitors as molecular probes of presenilin function

      JOURNAL OF MOLECULAR NEUROSCIENCE
    97. Vainzof, M; Anderson, LVB; McNally, EM; Davis, DB; Faulkner, G; Valle, G; Moreira, ES; Pavanello, RCM; Passos-Bueno, MR; Zatz, M
      Dysferlin protein analysis in limb-girdle muscular dystrophies

      JOURNAL OF MOLECULAR NEUROSCIENCE
    98. Kamynina, E; Debonneville, C; Bens, M; Vandewalle, A; Staub, O
      A novel mouse Nedd4 protein suppresses the activity of the epithelial Na+ channel

      FASEB JOURNAL
    99. Hedera, P
      Ethical principles and pitfalls of genetic testing for dementia

      JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY
    100. Pang, SY
      Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency

      ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA


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Documento generato il 26/01/21 alle ore 07:43:50