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American Journal of Human Genetics|May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyKornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.
Journal of Medical Genetics|July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eyeLinda M Reis, Mohit Maheshwari, Jenina Capasso, et al.
American Journal of Medical Genetics. Part A|March 16, 2007
Gastroschisis and associated defects: an international studyPierpaolo Mastroiacovo, Alessandra Lisi, Eduardo E Castilla, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|June 21, 2008
Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variationsEmanuele Leoncini, Giovanni Baranello, Iêda M Orioli, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|September 5, 2012
Prevalence of esophageal atresia among 18 international birth defects surveillance programsNatasha Nassar, Emanuele Leoncini, Emmanuelle Amar, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and ResearchEmanuele Leoncini, Lorenzo D Botto, Guido Cocchi, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
European Urology|July 14, 2019
Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010Xiao Yu, Natasha Nassar, Pierpaolo Mastroiacovo, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
Human Molecular Genetics|January 2, 2014
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypesAnath C Lionel, Kristiina Tammimies, Andrea K Vaags, et al.
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