Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'autosomal recessive' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 654 riferimenti
Si mostrano 100 riferimenti a partire da 1
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Di Donato, S; Gellera, C; Mariotti, C
      The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias

      NEUROLOGICAL SCIENCES
    2. Scriver, CR
      Human genetics: Lessons from Quebec populations

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    3. Jaeken, J; Matthijs, G
      Congenital disorders of glycosylation

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    4. Takanashi, M; Mochizuki, H; Yokomizo, K; Hattori, N; Mori, H; Yamamura, Y; Mizuno, Y
      Iron accumulation in the substantia nigra of autosomal recessive juvenile parkinsonism (ARJP)

      PARKINSONISM & RELATED DISORDERS
    5. Prasad, C; Johnson, JP; Bonnefont, JP; Dilling, LA; Innes, AM; Haworth, JC; Beischel, L; Thuillier, L; Prip-Buus, C; Singal, R; Thompson, JRG; Prasad, AN; Buist, N; Greenberg, CR
      Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program

      MOLECULAR GENETICS AND METABOLISM
    6. Hogema, BM; Akaboshi, S; Taylor, M; Salomons, GS; Jakobs, C; Schutgens, RB; Wilcken, B; Worthington, S; Maropoulos, G; Grompe, M; Gibson, KM
      Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses

      MOLECULAR GENETICS AND METABOLISM
    7. Van den Veyver, IB; Norman, B; Tran, CQ; Bourjac, J; Slim, R
      The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3)is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnancies

      JOURNAL OF THE SOCIETY FOR GYNECOLOGIC INVESTIGATION
    8. Notorangelo, LD; Mella, P; Jones, A; Baisle, GD; Savoldi, G; Cranston, T; Vihinen, M; Schumacher, RF
      Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

      HUMAN MUTATION
    9. Campbell, C; Cucci, RA; Prasad, S; Green, GE; Edeal, JB; Galer, CE; Karniski, LP; Sheffield, VC; Smith, RJH
      Pendred syndrome, DFNB4, and PDS/SCL26A4 identification of eight novel mutations and possible genotype-phenotype correlations

      HUMAN MUTATION
    10. Beekmans, SJA; Wiebe, MJ
      Surgical treatment of aplasia cutis in the Adams-Oliver syndrome

      JOURNAL OF CRANIOFACIAL SURGERY
    11. Balanovsky, OP; Buzhilova, AP; Balanovskaya, EV
      The Russian gene pool: Gene geography of surnames

      RUSSIAN JOURNAL OF GENETICS
    12. Vanlieferinghen, P; Borderon, C; Francannet, C; Gembara, P; Dechelotte, P
      Johanson-Blizzard syndrome. A new case with autopsy findings

      GENETIC COUNSELING
    13. Cesko, I; Hajdu, J; Marton, T; Tarnai, L; Papp, Z
      Polysplenia and situs inversus in siblings - Case reports

      FETAL DIAGNOSIS AND THERAPY
    14. Unay, B; Sarici, SU; Gul, D; Akin, R; Gokcay, E
      Adams-Oliver syndrome: further evidence for autosomal recessive inheritance

      CLINICAL DYSMORPHOLOGY
    15. Lammer, EJ; Scholes, T; Abrams, L
      Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?

      CLINICAL DYSMORPHOLOGY
    16. Teebi, AS; Druker, HA
      Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?

      CLINICAL DYSMORPHOLOGY
    17. Mohan, U; Misra, VP; Britto, J; Muntoni, F; King, RHM; Thomas, PK
      Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement

      NEUROMUSCULAR DISORDERS
    18. 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
    19. Barhoumi, C; Amouri, R; Ben Hamida, C; Ben Hamida, M; Machghoul, S; Gueddiche, M; Hentati, F
      Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3

      NEUROMUSCULAR DISORDERS
    20. 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
    21. Paladini, D; Tartaglione, A; Agangi, A; Foglia, S; Martinelli, P; Nappi, C
      Pena-Shokeir phenotype with variable onset in three consecutive pregnancies

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    22. Tanaka, K; Suzuki, T; Chiba, T; Shimura, H; Hattori, N; Mizuno, Y
      Parkin is linked to the ubiquitin pathway

      JOURNAL OF MOLECULAR MEDICINE-JMM
    23. Jones, HC; Depelteau, JS; Carter, BJ; Lopman, BA; Morel, L
      Genome-wide linkage analysis of inherited hydrocephalus in the H-Tx rat

      MAMMALIAN GENOME
    24. Fonck, C; Chauveau, D; Gagnadoux, MF; Pirson, Y; Grunfeld, JP
      Autosomal recessive polycystic kidney disease in adulthood

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    25. Bentivoglio, AR; Cortelli, P; Valente, EM; Ialongo, T; Ferraris, A; Elia, A; Montagna, P; Albanese, A
      Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families

      MOVEMENT DISORDERS
    26. Iacobini, M; Migliaccio, S; Roggini, M; Taranta, A; Werner, B; Panero, A; Teti, A
      Apparent cure of a newborn with malignant osteopetrosis using prednisone therapy

      JOURNAL OF BONE AND MINERAL RESEARCH
    27. Carlsson, G; Fasth, A
      Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review

      ACTA PAEDIATRICA
    28. Fatinni, Y; Asindi, A; Al Falki, Y; Al Harthi, A; Al Fifi, S; Al-Daama, S
      Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family

      ACTA PAEDIATRICA
    29. Bai, UM; Seidman, MD
      A specific mitochondrial DNA deletion (mtDNA(4977)) is identified in a pedigree of a family with hearing loss

      HEARING RESEARCH
    30. Majeed, HA; Al-Tarawna, M; El-Shanti, H; Kamel, B; Al-Khalaileh, F
      The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review

      EUROPEAN JOURNAL OF PEDIATRICS
    31. Benstead, TJ; Grant, IA
      Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies

      CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
    32. Di Luca, BJ; Mitchell, A
      Anaesthesia in a child with autosomal recessive omodysplasia

      ANAESTHESIA AND INTENSIVE CARE
    33. Vazquez, N; Lehrnbecher, T; Chen, R; Christensen, BL; Gallin, JI; Malech, H; Holland, S; Zhu, SX; Chanock, SJ
      Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes

      EXPERIMENTAL HEMATOLOGY
    34. Shoffner, JM
      An introduction: Oxidative phosphorylation diseases

      SEMINARS IN NEUROLOGY
    35. Kapelushnik, J; Shalev, C; Yaniv, I; Aker, M; Carmi, R; Cohen, Z; Mozer, A; Schulman, C; Stein, G; Or, R
      Osteopetrosis: a single centre experience of stem cell transplantation andprenatal diagnosis

      BONE MARROW TRANSPLANTATION
    36. Shalev, H; Mishori-Dery, A; Kapelushnik, J; Moser, A; Sheffield, VC; McClain, A; Carmi, R
      Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis

      PRENATAL DIAGNOSIS
    37. Antoniadi, T; Pampanos, A; Petersen, MB
      Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation

      PRENATAL DIAGNOSIS
    38. Huynh, DP; Dy, M; Nguyen, D; Kiehl, TR; Pulst, SM
      Differential expression and tissue distribution of parkin isoforms during mouse development

      DEVELOPMENTAL BRAIN RESEARCH
    39. Haddad, R; Uwaydat, S; Dakroub, R; Traboulsi, EI
      Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance

      AMERICAN JOURNAL OF MEDICAL GENETICS
    40. Zenteno, JC; Jimenez, AL; Canto, P; Valdez, H; Mendez, JP; Kofman-Alfaro, S
      Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue

      AMERICAN JOURNAL OF MEDICAL GENETICS
    41. Witters, I; Devriendt, K; Moerman, P; Caudron, J; Van Hole, C; Fryns, JP
      Bilateral tibial agenesis with ectrodactyly (OMIM 119100): Further evidence for autosomal recessive inheritance

      AMERICAN JOURNAL OF MEDICAL GENETICS
    42. van Haelst, MM; Hoogeboom, J; Galjaard, RJH; Kleijer, WJ; den Hollander, NS; de Krijger, RR; Hennekam, RCM; Niermeijer, MF
      Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    43. Orrico, A; Galli, L; Zappella, M; Lam, CW; Bonifacio, S; Torricelli, F; Hayek, G
      Possible case of Pitt-Hopkins syndrome in sibs

      AMERICAN JOURNAL OF MEDICAL GENETICS
    44. Avegno, J; Tilton, AH; Lacassie, Y
      Provisionally unique autosomal recessive syndrome due to significant consanguinity

      AMERICAN JOURNAL OF MEDICAL GENETICS
    45. Leonardi, ML; Pai, GS; Wilkes, B; Lebel, RR
      Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    46. Chamyan, G; Debich-Spicer, D; Opitz, JM; Gilbert-Barness, E
      Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18

      AMERICAN JOURNAL OF MEDICAL GENETICS
    47. Kondoh, T; Yamamoto, T; Kono, Y; Matsumoto, T; Sugawara, H; Matsumoto, N; Moriuchi, H
      Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: A new autosomalrecessive MCA/MR syndrome?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    48. Aylsworth, AS
      Clinical aspects of defects in the determination of laterality

      AMERICAN JOURNAL OF MEDICAL GENETICS
    49. Silengo, M; Del Monaco, A; Linari, A; Lala, R
      Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies

      AMERICAN JOURNAL OF MEDICAL GENETICS
    50. Drouin-Garraud, V; Belgrand, M; Grunewald, S; Seta, N; Dacher, JN; Henocq, A; Matthijs, G; Cormier-Daire, V; Frebourg, T; Saugier-Veber, P
      Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

      AMERICAN JOURNAL OF MEDICAL GENETICS
    51. Dell, KM; Nemo, R; Sweeney, WE; Levin, JI; Frost, P; Avner, ED
      A novel inhibitor of tumor necrosis factor-alpha converting enzyme ameliorates polycystic kidney disease

      KIDNEY INTERNATIONAL
    52. Lynn, EG; Siow, YL; Frohlich, J; Cheung, GTY; O, K
      Lipoprotein-X stimulates monocyte chemoattractant protein-1 expression in mesangial cells via nuclear factor-kappa B

      KIDNEY INTERNATIONAL
    53. Milliner, DS; Wilson, DM; Smith, LH
      Phenotypic expression of primary hyperoxaluria: Comparative features of types I and II

      KIDNEY INTERNATIONAL
    54. Batlle, D; Ghanekar, H; Jain, S; Mitra, A
      Hereditary distal renal tubular acidosis: New understandings

      ANNUAL REVIEW OF MEDICINE
    55. Rothdach, AJ; Dietl, T; Kumpfel, T; Gottschalk, M; Schumann, EM; Trenkwalder, C
      Familiar myoclonus-renal failure syndrome

      NERVENARZT
    56. Sermet-Gaudelus, I; Garabedian, M; Dechaux, M; Lenoir, G; Rey, J; Tieder, M
      Hereditary hypophosphatemic rickets with hypercalciuria: Report of a new kindred

      NEPHRON
    57. Kubo, S; Kitami, T; Noda, S; Shimura, H; Uchiyama, Y; Asakawa, S; Minoshima, S; Shimizu, N; Mizuno, Y; Hattori, N
      Parkin is associated with cellular vesicles

      JOURNAL OF NEUROCHEMISTRY
    58. Wang, M; Suzuki, T; Kitada, T; Asakawa, S; Minoshima, S; Shimizu, N; Tanaka, K; Mizuno, Y; Hattori, N
      Developmental changes in the expression of parkin and UbcR7, a parkin-interacting and ubiquitin-conjugating enzyme, in rat brain

      JOURNAL OF NEUROCHEMISTRY
    59. Van Laer, L; Coucke, P; Mueller, RF; Caethoven, G; Flothmann, K; Prasad, SD; Chamberlin, GP; Houseman, M; Taylor, GR; Van de Heyning, CM; Fransen, E; Rowland, J; Cucci, RA; Smith, RJH; Van Camp, G
      A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment

      JOURNAL OF MEDICAL GENETICS
    60. Amiel, J; Lyonnet, S
      Hirschsprung disease, associated syndromes, and genetics: a review

      JOURNAL OF MEDICAL GENETICS
    61. Koivisto, PA; Mustonen, A
      Primary spontaneous pneumothorax in two siblings suggests autosomal recessive inheritance

      CHEST
    62. Bittles, AH
      Consanguinity and its relevance to clinical genetics

      CLINICAL GENETICS
    63. Schmidt, H; Rudolph, G; Hergersberg, M; Schneider, K; Moradi, S; Meitinger, T
      Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome

      CLINICAL GENETICS
    64. Helfrich, MH; Gerritsen, EJA
      Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis

      BRITISH JOURNAL OF HAEMATOLOGY
    65. Virolainen, E; Niemi, KM; Ganem, A; Kere, J; Vahlquist, A; Saarialho-Kere, U
      Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma

      BRITISH JOURNAL OF DERMATOLOGY
    66. Cserhalmi-Friedman, PB; Milstone, LM; Christiano, AM
      Diagnosis of autosomal recessive lamellar ichthyosis with mutations in theTGM1 gene

      BRITISH JOURNAL OF DERMATOLOGY
    67. Nordal, EJ; Mecklenbeck, S; Hausser, I; Skranes, J; Bruckner-Tuderman, L; Gedde-Dahl, T
      Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets

      BRITISH JOURNAL OF DERMATOLOGY
    68. Malmer, B; Iselius, L; Holmberg, E; Collins, A; Henriksson, R; Gronberg, H
      Genetic epidemiology of glioma

      BRITISH JOURNAL OF CANCER
    69. McMahon, C; Will, A; Hu, PY; Shah, GN; Sly, WS; Smith, OP
      Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome

      BLOOD
    70. Klein, BEK; Cruickshanks, KJ; Nondahl, DM; Klein, R; Dalton, DS
      Cataract and hearing loss in a population-based study: The Beaver Dam studies

      AMERICAN JOURNAL OF OPHTHALMOLOGY
    71. Scimeca, JC; Franchi, A; Trojani, C; Parrinello, H; Grosgeorge, J; Robert, C; Jaillon, O; Poirier, C; Gaudray, P; Carle, GF
      The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants

      BONE
    72. Cohen, DP
      Molecular evaluation of the gonadotropin-releasing hormone receptor

      SEMINARS IN REPRODUCTIVE MEDICINE
    73. Yeowell, HN; Walker, LC
      Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiencyand the clinical phenotype of Ehlers-Danlos syndrome type VI

      MOLECULAR GENETICS AND METABOLISM
    74. Chanock, SJ; Roesler, J; Zhan, SX; Hopkins, P; Lee, P; Barrett, DT; Christensen, BL; Curnutte, JT; Gorlach, A
      Genomic structure of the human p47-phox (NCF1) Gene

      BLOOD CELLS MOLECULES AND DISEASES
    75. Genschel, J; Schmidt, HHJ
      Mutations in the LMNA gene encoding lamin A/C

      HUMAN MUTATION
    76. Prasad, S; Cucci, RA; Green, GE; Smith, RJH
      Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)

      HUMAN MUTATION
    77. Kornak, U; Schulz, A; Friedrich, W; Uhlhaas, S; Kremens, B; Voit, T; Hasan, C; Bode, U; Jentsch, TJ; Kubisch, C
      Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

      HUMAN MOLECULAR GENETICS
    78. Rajab, A; Riaz, A; Paul, G; Al-Khusaibi, S; Chalmers, R; Patton, MA
      Further delineation of the DOOR syndrome

      CLINICAL DYSMORPHOLOGY
    79. Guion-Almeida, ML; Richieri-Costa, A
      Amniotic band sequence versus the autosomal recessive microcephaly, facialclefting, and preaxial polydactyly syndrome

      CLINICAL DYSMORPHOLOGY
    80. Megarbane, A; Melki, I; Souraty, N; Gerbaka, J; El Ghouzzi, V; Bonaventure, J; Mornand, A; Loiselet, J
      Overlap between Baller-Gerold and Rothmund-Thomson syndrome

      CLINICAL DYSMORPHOLOGY
    81. Acosta, AX; Peres, LC; Chimelli, LC; Pina-Neto, JM
      Raine dysplasia: a Brazilian case with a mild radiological involvement

      CLINICAL DYSMORPHOLOGY
    82. Devriendt, K; Keymolen, K; Roelen, L; Van Goethem, G; Meireleire, J; Fryns, JP
      Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism

      CLINICAL DYSMORPHOLOGY
    83. Amor, DJ; Woods, CG
      Pseudotrisomy 13 syndrome in siblings

      CLINICAL DYSMORPHOLOGY
    84. Abdel-Salam, G; Czeizel, AE
      The second unrelated case with isolated microcephaly and normal intelligence (Microcephalia vera)

      CLINICAL DYSMORPHOLOGY
    85. Driss, A; Amouri, R; Ben Hamida, C; Souilem, S; Gouider-Khouja, N; Ben Hamida, M; Hentati, F
      A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3

      NEUROMUSCULAR DISORDERS
    86. Salih, MAM; Maisonobe, T; Kabiraj, M; Al Rayess, M; Al-Turaiki, MHS; Akbar, M; Tahan, A; Urtizberea, JA; Grid, D; Hamadouche, T; Guilbot, A; Brice, A; Leguern, E
      Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity

      NEUROMUSCULAR DISORDERS
    87. D'Agata, V; Grimaldi, M; Pascale, A; Cavallaro, S
      Regional and cellular expression of the parkin gene in the rat cerebral cortex

      EUROPEAN JOURNAL OF NEUROSCIENCE
    88. Loo, DMWMT; Levtchenko, E; Furlan, M; Roosendaal, GPM; van den Heuvel, LPWJ
      Autosomal recessive inheritance of von Willebrand factor-cleaving proteasedeficiency

      PEDIATRIC NEPHROLOGY
    89. Tsimaratos, M; Cloarec, S; Roquelaure, B; Retornaz, K; Picon, G; Chabrol, B; Guys, JM; Sarles, J; Nivet, H
      Chronic renal failure and portal hypertension - is portosystemic shunt indicated?

      PEDIATRIC NEPHROLOGY
    90. Alvarez, V; Malaga, S; Navarro, M; Espinosa, L; Hidalgo, E; Badia, J; Alvarez, R; Coto, E
      Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease

      PEDIATRIC NEPHROLOGY
    91. Gagnadoux, MF; Attie, T; Amiel, J; Gigarel, N; Bonnefont, JP; Munnich, A; Gubler, MC; Antignac, C
      Prenatal diagnosis in autosomal recessive polycystic kidney disease

      ARCHIVES DE PEDIATRIE
    92. Jouvencel, P; Brun, M; Le Manh, C; Micheau, M; Sarlangue, J
      Radiological quiz of the month

      ARCHIVES DE PEDIATRIE
    93. Huq, AHMM; Nigro, MA
      XY sex reversal and a nonprogressive neurologic disorder: A new syndrome?

      PEDIATRIC NEUROLOGY
    94. Hayashi, S; Wakabayashi, K; Ishikawa, A; Nagai, H; Saito, M; Maruyama, M; Takahashi, T; Ozawa, T; Tsuji, S; Takahashi, H
      An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene

      MOVEMENT DISORDERS
    95. Flanagan, AM; Sarma, U; Steward, CG; Vellodi, A; Horton, MA
      Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: A new approach to investigating pathogenesis

      JOURNAL OF BONE AND MINERAL RESEARCH
    96. Kocyigit, H; Arkun, R; Ozkinay, F; Cogulu, O; Hizli, N; Memis, A
      Spondyloepiphyseal dysplasia tarda with progressive arthropathy

      CLINICAL RHEUMATOLOGY
    97. Andersen, C; Ramsay, JA; Nogee, LM; Shah, J; Wert, SE; Paes, B; Nowaczyk, MJM
      Recurrent familial neonatal deaths: Hereditary surfactant protein B deficiency

      AMERICAN JOURNAL OF PERINATOLOGY
    98. Yamamura, Y; Hattori, N; Matsumine, H; Kuzuhara, S; Mizuno, Y
      Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification

      BRAIN & DEVELOPMENT
    99. Saito, M; Maruyama, M; Ikeuchi, K; Kondo, H; Ishikawa, A; Yuasa, T; Tsuji, S
      Autosomal recessive juvenile parkinsonism

      BRAIN & DEVELOPMENT
    100. Du, FL; Acland, GM; Ray, J
      Cloning and expression of type II collagen mRNA: evaluation as a candidatefor canine oculo-skeletal dysplasia

      GENE


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 22:12:56