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European Journal of Human Genetics : EJHG|October 22, 2009
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionMarlène Rio, Valérie Malan, Sarah Boissel, et al.
Fetal and Pediatric Pathology|January 1, 2019
Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal CasesAurélie Beaufrère, Maryse Bonnière, Julia Tantau, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetranceMatthieu Egloff, Lam-Son Nguyen, Karine Siquier-Pernet, et al.
American Journal of Medical Genetics. Part A|July 23, 2021
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactylyAhmed El Mouatani, Géraldine Van Winckel, Khaoula Zaafrane-Khachnaoui, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 19, 2012
Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)Deidre R Krupp, Pu-Ting Xu, Sophie Thomas, et al.
The Journal of Clinical Endocrinology and Metabolism|November 2, 2006
Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetusGabor Szinnai, Ludovic Lacroix, Aurore Carré, et al.
American Journal of Medical Genetics. Part A|April 2, 2004
Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be differentGéraldine Viot, Pascale Sonigo, Isabelle Simon, et al.
Pediatric Research|October 22, 2004
Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresiaNaziha Khen, Francis Jaubert, Frederique Sauvat, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
PAX2 mutations in fetal renal hypodysplasiaJelena Martinovic-Bouriel, Alexandra Benachi, Maryse Bonnière, et al.
Molecular Genetics and Metabolism|July 20, 2010
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?Nadia Léticée, Bettina Bessières-Grattagliano, Thierry Dupré, et al.
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