Atypical Progeroid Syndrome: An Unknown Helicase Gene Defect? (Englisch)
- Neue Suche nach: Ruijs, M. W. G.
- Neue Suche nach: van Andel, R. N. J.
- Neue Suche nach: Oshima, J.
- Neue Suche nach: Madan, K.
- Neue Suche nach: Nieuwint, A. W. M.
- Neue Suche nach: Aalfs, C. M.
- Neue Suche nach: Ruijs, M. W. G.
- Neue Suche nach: van Andel, R. N. J.
- Neue Suche nach: Oshima, J.
- Neue Suche nach: Madan, K.
- Neue Suche nach: Nieuwint, A. W. M.
- Neue Suche nach: Aalfs, C. M.
In:
AMERICAN JOURNAL OF MEDICAL GENETICS
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116
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295-299
;
2002
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ISSN:
- Aufsatz (Zeitschrift) / Print
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Titel:Atypical Progeroid Syndrome: An Unknown Helicase Gene Defect?
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Beteiligte:Ruijs, M. W. G. ( Autor:in ) / van Andel, R. N. J. ( Autor:in ) / Oshima, J. ( Autor:in ) / Madan, K. ( Autor:in ) / Nieuwint, A. W. M. ( Autor:in ) / Aalfs, C. M. ( Autor:in )
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Erschienen in:AMERICAN JOURNAL OF MEDICAL GENETICS ; 116 ; 295-299
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Verlag:
- Neue Suche nach: JOHN WILEY & SONS LTD
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Erscheinungsdatum:01.01.2002
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Format / Umfang:5 pages
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ISSN:
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Medientyp:Aufsatz (Zeitschrift)
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Format:Print
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Sprache:Englisch
- Neue Suche nach: 616.042
- Weitere Informationen zu Dewey Decimal Classification
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Klassifikation:
DDC: 616.042 -
Datenquelle:
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46,XY Gonadal Dysgenesis: Evidence for Autosomal Dominant Transmission in a Large KindredLe Caignec, C. / Baron, S. / McElreavey, K. / Joubert, M. / Rival, J.-M. / Mechinaud, F. / David, A. et al. | 2003
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Association Study Between the Fibronectin Gene and SchizophreniaNakata, K. / Ujike, H. / Sakai, A. / Takaki, M. / Imamura, T. / Tanaka, Y. / Kuroda, S. et al. | 2003
- 44
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A Distinct Neurocognitive Phenotype in Female Fragile-X Premutation Carriers Assessed With Visual Attention TasksSteyaert, J. / Legius, E. / Borghgraef, M. / Fryns, J.-P. et al. | 2003
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CAG Repeat Polymorphisms in KCNN3 (HSKCa3)and PPP2R2B Show No Association or Linkage to SchizophreniaLaurent, C. / Niehaus, D. / Bauche, S. / Levinson, D. F. / Soubigou, S. / Pimstone, S. / Hayden, M. / Mbanga, I. / Emsley, R. / Deleuze, J.-F. et al. | 2003
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Polymorphisms of Dopamine Receptors and Tardive Dyskinesia Among Chinese Patients With SchizophreniaChong, S.-A. / Tan, E.-C. / Tan, C. H. / Mythily / Chan, Y. H. et al. | 2003
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Further Delineation of Wittwer Syndrome and Refinement of the Mapping RegionWieland, I. / Muschke, P. / Wieacker, P. et al. | 2003
- 60
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Obsessive-Compulsive Symptom Dimensions in Affected Sibling Pairs Diagnosed With Gilles de la Tourette SyndromerLeckman, J. F. / Pauls, D. L. / Zhang, H. / Rosario-Campos, M. C. / Katsovich, L. / Kidd, K. K. / Pakstis, A. J. / Alsobrook, J. P. / Robertson, M. M. / McMahon, W. M. et al. | 2003
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- 66
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Velocardiofacial Syndrome in an Unexplained XX MalePhelan, M. C. / Rogers, R. C. / Crawford, E. C. / Brown, L. G. / Page, D. C. et al. | 2003
- 77
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Polymorphism Screening of PIK4CA: Possible Candidate Gene for Chromosome 22q11-Linked Psychiatric DisordersSaito, T. / Stopkova, P. / Diaz, L. / Papolos, D. F. / Boussemart, L. / Lachman, H. M. et al. | 2003
- 80
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Two Sibs With Brachyolmia Type Hobaek: Five Year Follow-Up Through PubertyHoo, J. J. / Oliphant, M. et al. | 2003
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Association Analysis of Monoamine Oxidase A and Attention Deficit Hyperactivity DisorderLawson, D. C. / Turic, D. / Langley, K. / Pay, H. M. / Govan, C. F. / Norton, N. / Hamshere, M. L. / Owen, M. J. / O Donovan, M. C. / Thapar, A. et al. | 2003
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Recurrence of Complex Camptopolydactyly in a Sibling Suggestive of Autosomal Recessive Mode of InheritancePhadke, S. R. / Agarwal, S. / Puri, R. D. et al. | 2003
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Down Syndrome Before Down: A PostscriptBerg, J. M. et al. | 2003
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Genetic Variation in Apolipoprotein D Affects the Risk of Alzheimer Disease in African-AmericansDesai, P. P. / Hendrie, H. C. / Evans, R. M. / Murrell, J. R. / DeKosky, S. T. / Kamboh, M. I. et al. | 2003
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Incidence of Smith-Lemli-Opitz Syndrome in Ontario, CanadaMartinez-Frias, M. L. / Bermejo, E. / Rodriguez-Pinilla, E. et al. | 2003
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Letter to the Editor: The Real Problem in Association StudiesComings, D. E. et al. | 2003
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Reply to Correspondence From Martinez-Frias et al.-"Incidence of Smith-Lemli-Opitz Syndrome in Ontario, Canada"Nowaczyk, M. J. M. / McCaughey, D. / Whelan, D. T. / Porter, F. D. et al. | 2003
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Lack of Association Between Y Chromosome Haplogroups and Male Infertility in Japanese MenCarvalho, C. M. B. / Fujisawa, M. / Shirakawa, T. / Gotoh, A. / Kamidono, S. / Paulo, T. F. / Santos, S. E. B. / Rocha, J. / Pena, S. D. J. / Santos, F. R. et al. | 2003
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Unknown Diagnosis in Two Male Cousins with Facial Abnormalities, Optic Atrophy, Abnormal EEG, and Severe Psychomotor RetardationMegarbane, A. et al. | 2003
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Hirschsprung Disease, Mental Retardation, Characteristic Facial Features, and Mutation in the Gene ZFHX1B (SIP1): Confirmation of the Mowat-Wilson SyndromeGaravelli, L. / Donadio, A. / Zanacca, C. / Banchini, G. / Giustina, E. D. / Bertani, G. / Albertini, G. / Del Rossi, C. / Zweier, C. / Rauch, A. et al. | 2003
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Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 GeneSarkozy, A. / Conti, E. / Esposito, G. / Pizzuti, A. / Dallapiccola, B. / Mingarelli, R. / Marino, B. / Digilio, M. C. / Paoletti, V. et al. | 2003
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15-Month-Old Infant With Failure to Thrive, Hepatomegaly, Increased Liver Enzymes, Hypoproteinemia, and SeizuresBarness, L. A. / Patterson, R. F. / Barness, E. G. / Nora, F. E. / Chamyan, G. / Lacson, A. / Pomerance, H. H. et al. | 2003
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An Angel With Down Syndrome in a Sixteenth Century Flemish Nativity PaintingLevitas, A. S. / Reid, C. S. et al. | 2003
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An Introduction to Genetic Engineering 2nd editionSuter, B. et al. | 2003
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Comment on Elejalde Syndrome and Relationship With Griscelli SyndromeBahadoran, P. / Ortonne, J.-P. / Ballotti, R. / de Saint-Basile, G. et al. | 2003
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CFC SyndromeNeri, G. / Kavamura, M. I. / Zollino, M. / Opitz, J. M. et al. | 2003
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Cardio-Facio-Cutaneous Syndrome Phenotype and Del(12q)Rauen, K. A. / Cotter, P. D. et al. | 2003
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Lack of Association between ZIC2 and ZIC3 Genes and the Risk of Neural Tube Defects (NTDs) in Hispanic PopulationsZhu, H. / Junker, W. M. / Finnell, R. H. / Brown, S. / Shaw, G. M. / Lammer, E. J. / Canfield, M. / Hendricks, K. et al. | 2003