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    1. Ilan, T; Shohat, T; Tobar, A; Magal, N; Yahav, M; Halpern, GJ; Rechavi, G; Shohat, M
      Autosomal dominant nephritis with renal failure of non-alport type: Clinical and molecular studies

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    2. Verstreken, M; Declau, F; Wuyts, FL; D'Haese, P; Van Camp, G; Fransen, E; Van den Hauwe, L; Buyle, S; Smets, REM; Feenstra, L; Van der Stappen, A; Van de Heyning, PH
      Hereditary otovestibular dysfunction and Meniere's disease in a large Belgian family is caused by a missense mutation in the COCH gene

      OTOLOGY & NEUROTOLOGY
    3. Kemperman, MH; Stinckens, C; Kumar, S; Huygen, PLM; Joosten, FBM; Cremers, CWRJ
      Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome

      OTOLOGY & NEUROTOLOGY
    4. Morris, GE
      The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy

      TRENDS IN MOLECULAR MEDICINE
    5. Wilkie, AOM; Morriss-Kay, GM
      Genetics of craniofacial development and malformation

      NATURE REVIEWS GENETICS
    6. Akita, J; Abe, S; Shinkawa, H; Kimberling, WJ; Usami, S
      Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese

      JOURNAL OF HUMAN GENETICS
    7. Takashima, M; Ishikawa, K; Nagaoka, U; Shoji, S; Mizusawa, H
      A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan

      JOURNAL OF HUMAN GENETICS
    8. Duga, S; Solda, G; Asselta, R; Bonati, MT; Dalpra, L; Malcovati, M; Tenchini, ML
      Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms

      JOURNAL OF HUMAN GENETICS
    9. 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
    10. Kotorii, S; Takahashi, K; Kamimura, K; Nishio, T; Arima, K; Yamada, H; Uyama, E; Uchino, M; Suenaga, A; Matsumoto, M; Kuchel, G; Rouleau, GA; Tabira, T
      Mutations of the Notch3 gene in non-caucasian patients with suspected CADASIL syndrome

      DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
    11. Burke, B; Mounkes, LC; Stewart, C
      The nuclear envelope in muscular dystrophy and cardiovascular diseases

      TRAFFIC
    12. Harris, JG; Filley, CM
      CADASIL: Neuropsychological findings in three generations of an affected family

      JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
    13. Nakayama, T; Minato, M; Nakagawa, M; Soma, M; Tobe, H; Aoi, N; Kosuge, K; Sato, M; Ozawa, Y; Kanmatsuse, K; Kokubun, S
      A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia

      ENDOCRINE
    14. Pal, PK; Wszolek, ZK; Uitti, R; Markopoulou, K; Calne, SM; Stoessl, AJ; Calne, DB
      Positron emission tomography of dopamine pathways in familial Parkinsoniansyndromes

      PARKINSONISM & RELATED DISORDERS
    15. Kuopio, AM; Marttila, RJ; Helenius, H; Rinne, UK
      Familial occurrence of Parkinson's disease in a community-based case-control study

      PARKINSONISM & RELATED DISORDERS
    16. Pal, PK; Wszolek, ZK; Kishore, A; de la Fuente-Fernandez, R; Sossi, V; Uitti, RJ; Dobko, T; Stoessl, AJ
      Positron emission tomography in pallido-ponto-nigral degeneration (PPND) family (frontotemporal dementia with parkinsonism linked to chromosome 17 and point mutation in tau gene)

      PARKINSONISM & RELATED DISORDERS
    17. McRae, CA; Diem, G; Yamazaki, TG; Mitek, A; Wszolek, ZK
      Interest in genetic testing in pallido-ponto-nigral degeneration (PPND): afamily with frontotemporal dementia with Parkinsonism linked to chromosome17

      EUROPEAN JOURNAL OF NEUROLOGY
    18. Tubridy, N; Fontaine, B; Eymard, B
      Congenital myopathies and congenital muscular dystrophies

      CURRENT OPINION IN NEUROLOGY
    19. Chung, MY; Lu, JH; Chien, HP; Hwang, B
      Chromosome 22q11 microdeletion in conotruncal heart defects: Clinical presentation, parental origin and de novo mutations

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    20. Kovach, MJ; Ruiz, J; Kimonis, K; Mueed, S; Sinha, S; Higgins, C; Elble, S; Elble, R; Kimonis, VE
      Genetic heterogeneity in autosomal dominant essential tremor

      GENETICS IN MEDICINE
    21. McDonald-McGinn, DM; Tonnesen, MK; Laufer-Cahana, A; Finucane, B; Driscoll, DA; Emanuel, BS; Zackai, EH
      Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

      GENETICS IN MEDICINE
    22. DiMeglio, LA; Gagliardi, PC; Browning, JE; Quigley, CA; Repaske, DR
      A missense mutation encoding Cys(67) -> Gly in neurophysin II is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus

      MOLECULAR GENETICS AND METABOLISM
    23. Hong, R
      The DiGeorge anomaly

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    24. 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
    25. Deltas, CC
      Mutations of the human polycystic kidney disease 2 (PKD2) gene

      HUMAN MUTATION
    26. 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
    27. Taschner, PEM; Jansen, JC; Baysal, BE; Bosch, A; Rosenberg, EH; Brocker-Vriends, AHJT; van der Mey, AGL; van Ommen, GJB; Cornelisse, CJ; Devilee, P
      Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene

      GENES CHROMOSOMES & CANCER
    28. Grattan-Smith, PJ; Healey, S; Grigg, JR; Christodoulou, J
      Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    29. Kitsos, G; Eiberg, H; Economou-Petersen, E; Wirtz, MK; Kramer, PL; Aspiotis, M; Tommerup, N; Petersen, MB; Psilas, K
      Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree

      EUROPEAN JOURNAL OF HUMAN GENETICS
    30. Radhakrishna, U; Senol, S; Herken, H; Gucuyener, K; Gehrig, C; Blouin, JL; Akarsu, NA; Antonarakis, SE
      An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree

      EUROPEAN JOURNAL OF HUMAN GENETICS
    31. De Smet, L; Devriendt, K; Fryns, JP
      Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome.Two affected halfsisters and normal father

      GENETIC COUNSELING
    32. Bornemann, A; Goebel, HH
      Congenital myopathies

      BRAIN PATHOLOGY
    33. Pierson, DM; Taboada, EM; Lofland, GK; Begleiter, ML; Smith, GS; Hall, F; Butler, MG
      Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar featuresin his 36-year-old father

      CLINICAL DYSMORPHOLOGY
    34. Becker, K; Splitt, M
      A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome

      CLINICAL DYSMORPHOLOGY
    35. Vohanka, S; Vytopil, M; Bednarik, J; Lukas, Z; Kadanka, Z; Schildberger, J; Ricotti, R; Bione, S; Toniolo, D
      A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy

      NEUROMUSCULAR DISORDERS
    36. Voit, T; Kutz, P; Leube, B; Neuen-Jacob, E; Schroder, JM; Cavallotti, D; Vaccario, ML; Schaper, J; Broich, P; Cohn, R; Baethmann, M; Gohlich-Ratmann, G; Scoppetta, C; Herrmann, R
      Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

      NEUROMUSCULAR DISORDERS
    37. Maeda, Y; Fukushima, K; Kasai, N; Maeta, M; Nishizaki, K
      Quantification of TECTA and DFNA5 expression in the developing mouse cochlea

      NEUROREPORT
    38. Takada, K; Homma, H; Takahashi, M; Mezawa, S; Miyanishi, K; Sumiyoshi, T; Doi, T; Kukitsu, T; Kato, J; Niitsu, Y
      A case of successful management of portosystemic shunt with autosomal dominant polycystic kidney disease by balloon-occluded retrograde transvenous obliteration and partial splenic embolization

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    39. Tank, J; Toka, O; Toka, HR; Jordan, J; Diedrich, A; Busjahn, A; Luft, FC
      Autonomic nervous system function in patients with monogenic hypertension and brachydactyly: a field study in northeastern Turkey

      JOURNAL OF HUMAN HYPERTENSION
    40. Masuoka, J; Brandner, S; Paulus, W; Soffer, D; Vital, A; Chimelli, L; Jouvet, A; Yonekawa, Y; Kleihues, P; Ohgaki, H
      Germline SDHD mutation in paraganglioma of the spinal cord

      ONCOGENE
    41. Bhola, RM; Horne, GV; Squirrell, DM; Chan, TK; Kumar, D
      Autosomal dominant congenital superior oblique palsy

      EYE
    42. Vikkula, M; Boon, LM; Mulliken, JB
      Molecular genetics of vascular malformations

      MATRIX BIOLOGY
    43. Misgeld, E; Gattermann, N; Wehmeier, A; Weiland, C; Peters, U; Kohne, E
      Hemoglobinopathy York [beta 146 (HC3] His double right arrow Pro]: first report of a family history

      ANNALS OF HEMATOLOGY
    44. Nahm, AM; Ritz, E
      Acquired renal cysts

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    45. Shan, YS; Lee, PC; Sy, ED; Hung, CJ; Lin, YJ
      Polycystic kidney patient as a cadaveric donor: is it appropriate?

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    46. Schiavello, T; Burke, V; Bogdanova, N; Jasik, P; Melsom, S; Boudville, N; Robertson, K; Angelicheva, D; Dworniczak, B; Lemmens, M; Horst, J; Todorov, V; Dimitrakov, D; Sulowicz, W; Krasniak, A; Stompor, T; Beilin, L; Hallmayer, J; Kalaydjieva, L; Thomas, M
      Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    47. van Dijk, MA; Kamper, AM; van Veen, S; Souverijn, JHM; Blauw, GJ
      Effect of simvastatin on renal function in autosomal dominant polycystic kidney disease

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    48. Rinat, C; Farkas, A; Frishberg, Y
      Familial inheritance of crossed fused renal ectopia

      PEDIATRIC NEPHROLOGY
    49. Zelikovic, I
      Molecular pathophysiology of tubular transport disorders

      PEDIATRIC NEPHROLOGY
    50. Houillier, P; Eladari, D; Maruani, G
      Physiology and pathophysiology of the calcium-sensing receptor.

      ARCHIVES DE PEDIATRIE
    51. Lien, LM; Yang, CC; Chen, WH; Chiu, HC
      Bethlem myopathy in a Taiwanese family

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    52. Weston, BS; Bagneris, C; Price, RG; Stirling, JL
      The polycystin-1 C-type lectin domain binds carbohydrate in a calcium-dependent manner, and interacts with extracellular matrix proteins in vitro

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    53. Kondo, A; Akakura, K; Ito, H
      Assessment of renal function with color Doppler ultrasound in autosomal dominant polycystic kidney disease

      INTERNATIONAL JOURNAL OF UROLOGY
    54. Miwa, S; Fuse, H; Hirano, S; Masuda, S
      Transitional cell carcinoma of the renal pelvis in a long-term hemodialysis patient with autosomal dominant polycystic kidney

      INTERNATIONAL JOURNAL OF UROLOGY
    55. 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
    56. Lewis, MP; Machell, JRA; Hunt, NP; Sinanan, ACM; Tippett, HL
      The extracellular matrix of muscle - implications for manipulation of the craniofacial musculature

      EUROPEAN JOURNAL OF ORAL SCIENCES
    57. Hu, JCC; Sun, XL; Zhang, CH; Simmer, JP
      A comparison of enamelin and amelogenin expression in developing mouse molars

      EUROPEAN JOURNAL OF ORAL SCIENCES
    58. Mardh, CK; Backman, B; Simmons, D; Golovleva, I; Gu, TT; Holmgren, G; MacDougall, M; Forsman-Semb, K
      Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients

      EUROPEAN JOURNAL OF ORAL SCIENCES
    59. Hodge, P; Michalowicz, B
      Genetic predisposition to periodontitis in children and young adults

      PERIODONTOLOGY 2000
    60. Peterson, BS; Pine, DS; Cohen, P; Brook, JS
      Prospective, longitudinal study of tic, obsessive-compulsive, and attention-deficit/hyperactivity disorders in an epidemiological sample

      JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
    61. Szymko-Bennett, YM; Mastroianni, MA; Shotland, LI; Davis, J; Ondrey, FG; Balog, JZ; Rudy, SF; McCullagh, L; Levy, HP; Liberfarb, RM; Francomano, CA; Griffith, AJ
      Auditory dysfunction in Stickler syndrome

      ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY
    62. Bostantjopoulou, S; Katsarou, Z; Papadimitriou, A; Veletza, V; Hatzigeorgiou, G; Lees, A
      Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation

      MOVEMENT DISORDERS
    63. Wunderlich, S; Reiners, K; Gasser, T; Naumann, M
      Cervical dystonia in monozygotic twins: Case report and review of the literature

      MOVEMENT DISORDERS
    64. Wszolek, ZK; Kardon, RH; Wolters, EC; Pfeiffer, RF
      Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): PPND family. A longitudinal videotape demonstration

      MOVEMENT DISORDERS
    65. Greenfield, JR; Center, JR; Freund, J; Eisman, JA
      Treatment of an atraumatic fracture: The importance of establishing a definitive diagnosis

      JOURNAL OF BONE AND MINERAL RESEARCH
    66. Friedman, J; Standaert, DG
      Dystonia and its disorders

      NEUROLOGIC CLINICS
    67. Marcus, D; Kurlan, R
      Tics and its disorders

      NEUROLOGIC CLINICS
    68. Reddy, PS; Reddy, YCJ; Srinath, S; Khanna, S; Sheshadri, SP; Girimaji, SR
      A family study of juvenile obsessive-compulsive disorder

      CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE
    69. Kasai, N; Fukushima, K; Ueki, Y; Prasad, S; Nosakowski, J; Sugata, K; Sugata, A; Nishizaki, K; Meyer, NC; Smith, RJH
      Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus

      GENE
    70. Fotopoulos, AD; Katopodis, K; Balafa, O; Katsaraki, A; Kalaitzidis, R; Siamopoulos, KC
      Individual renal function in polycystic kidney disease - A follow-up study

      CLINICAL NUCLEAR MEDICINE
    71. Obermuller, N; Morente, N; Kranzlin, B; Gretz, N; Witzgall, R
      A possible role for metalloproteinases in renal cyst development

      AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
    72. Abele, M; Burk, K; Laccone, F; Dichgans, J; Klockgether, T
      Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3

      JOURNAL OF NEUROLOGY
    73. Gasser, T
      Genetics of Parkinson's disease

      JOURNAL OF NEUROLOGY
    74. Leippold, T; Pestalozzi, D; Gloor, HJ; Fehr, JL
      Autosomal-dominant polycystic kidney disease. A case report of a 20-kg polycystic kidney

      UROLOGE A
    75. Ensink, RJH; Huygen, PLM; Snoeckx, RL; Caethoven, G; Van Camp, G; Cremers, CWRJ
      A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13

      CLINICAL OTOLARYNGOLOGY
    76. Zink, M; Grimm, L; Wszolek, ZK; Gasser, T
      Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha)

      JOURNAL OF NEURAL TRANSMISSION
    77. Osterziel, KJ; Scheffold, T; Perrot, A; Dietz, R
      The genetics of dilated cardiomyopathy

      ZEITSCHRIFT FUR KARDIOLOGIE
    78. Yamauchi, M; Sugimoto, T; Yamaguchi, T; Yano, S; Kanzawa, M; Kobayashi, A; Chihara, K
      Association of polymorphic alleles of the calcium-sensing receptor gene with the clinical severity of primary hyperparathyroidism

      CLINICAL ENDOCRINOLOGY
    79. Hirano, K; Hotta, Y; Nakamura, M; Fujiki, K; Kanai, A; Yamamoto, N
      Late-onset form of lattice corneal dystrophy caused by Leu527Arg mutation of the TGFBI gene

      CORNEA
    80. Tanner, GA; Tanner, JA
      Chronic caffeine consumption exacerbates hypertension in rats with polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    81. Belz, MM; Hughes, RL; Kaehny, WD; Johnson, AM; Fick-Brosnahan, GM; Earnest, MP; Gabow, PA
      Familial clustering of ruptured intracranial aneurysms in autosomal dominant polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    82. Holthouse, D; Wong, D
      Chronic subdural hematoma in a 50-year-old man with polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    83. Chatha, RK; Johnson, AM; Rothberg, PG; Townsend, RR; Neumann, HPH; Gabow, PA
      Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease

      AMERICAN JOURNAL OF KIDNEY DISEASES
    84. Shoffner, JM
      An introduction: Oxidative phosphorylation diseases

      SEMINARS IN NEUROLOGY
    85. Urbizu, JM; Gainza, FJ; Lampreabe, I
      Molecular basis of inherited tubular disorders affecting electrolytes and water transport

      NEFROLOGIA
    86. Reed, LA; Wszolek, ZK; Hutton, M
      Phenotypic correlations in FTDP-17

      NEUROBIOLOGY OF AGING
    87. Morin, G; Gekas, J; Naepels, P; Gondry, J; Devauchelle, B; Testelin, S; Sevestre, H; Thepot, F; Mathieu, M
      Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

      PRENATAL DIAGNOSIS
    88. Takegoshi, K; Tanaka, K; Nomura, H; Miyagi, K; Taira, S; Takayanagi, N
      Successful living donor liver transplantation for polycystic liver in a patient with auto somal-dominant polycystic kidney disease

      JOURNAL OF CLINICAL GASTROENTEROLOGY
    89. Feys, J; Nodarian, M; Aygalenq, P; Cattan, D; Bouccara, AS; Beaumont, C
      Hereditary hyperferritinemia - Cataract syndrome

      JOURNAL FRANCAIS D OPHTALMOLOGIE
    90. de Vernejoul, MC; Benichou, O
      Human osteopetrosis and other sclerosing disorders: Recent genetic developments

      CALCIFIED TISSUE INTERNATIONAL
    91. Parvari, R; Shnaider, A; Basok, A; Katchko, L; Borochovich, Z; Kanis, A; Landau, D
      Clinical and genetic characterization of an autosomal dominant nephropathy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    92. Pankau, R; Siebert, R; Kautza, M; Schneppenheim, R; Gosch, A; Wessel, A; Partsch, CJ
      Familial Williams-Beuren syndrome showing varying clinical expression

      AMERICAN JOURNAL OF MEDICAL GENETICS
    93. Kano, Y; Ohta, M; Nagai, Y; Pauls, DL; Leckman, JF
      A family study of Tourette syndrome in Japan

      AMERICAN JOURNAL OF MEDICAL GENETICS
    94. Cooper, SC; Flaitz, CM; Johnston, DA; Lee, B; Hecht, JT
      A natural history of cleidocranial dysplasia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    95. Brown, CA; Lanning, RW; McKinney, KQ; Salvino, AR; Cherniske, E; Crowe, CA; Darras, BT; Gominak, S; Greenberg, CR; Grosmann, C; Heydemann, P; Mendell, JR; Pober, BR; Sasaki, T; Shapiro, F; Simpson, DA; Suchowersky, O; Spence, JE
      Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifussmuscular dystrophy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    96. Stankiewicz, P; Thiele, H; Giannakudis, I; Schlicker, M; Baldermann, C; Kruger, A; Dorr, S; Starke, H; Hansmann, I
      Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression

      AMERICAN JOURNAL OF MEDICAL GENETICS
    97. Krantz, ID; Tonkin, E; Smith, M; Devoto, M; Bottani, A; Simpson, C; Hofreiter, M; Abraham, V; Jukofsky, L; Conti, BP; Strachan, T; Jackson, L
      Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange Syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    98. Braun, HS; Nurnberg, P; Tinschert, S
      Metaphyseal dysplasia: A new autosomal dominant type in a large German kindred

      AMERICAN JOURNAL OF MEDICAL GENETICS
    99. Digilio, MC; Marino, B; Toscano, A; Giannotti, A; Dallapiccola, B
      Congenital heart defects in Kabuki syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    100. Unwin, RJ; Capasso, G
      The renal tubular acidoses

      JOURNAL OF THE ROYAL SOCIETY OF MEDICINE


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/19 alle ore 20:10:55