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American Journal of Obstetrics and Gynecology|June 24, 2024
Amniocentesis in pregnancies at or beyond 24 weeks: an international multicenter studyRoni Zemet, Mohamad Ali Maktabi, Alexandra Tinfow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2023
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomaliesJeremiah Martino, Qingxue Liu, Katarina Vukojevic, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 25, 2022
Prenatal phenotyping: A community effort to enhance the Human Phenotype OntologyFerdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, et al.
American Journal of Human Genetics|January 3, 2025
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humansEmmanuelle Szenker-Ravi, Tim Ott, Amirah Yusof, et al.
American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
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