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المؤلفون: Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
المصدر: Molecular Syndromology. 5:I-IV
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: André B.P. van Kuilenburg, Rutger Meinsma, Raoul C.M. Hennekam, Rowani Mohd Rawi, Bee Chin Chen, Judith Meijer
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics
المصدر: Molecular syndromology, 5(6), 299-303. S. Karger AG
مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, Creatinine, business.industry, Short Report, medicine.disease, Hypotonia, Dihydropyrimidine dehydrogenase deficiency, chemistry.chemical_compound, Dysgenesis, Endocrinology, chemistry, Internal medicine, Genetics, medicine, Dihydropyrimidine dehydrogenase, Cerebellar atrophy, DPYD, medicine.symptom, business, Genetics (clinical)