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American Journal of Medical Genetics. Part A|April 29, 2010
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial featuresArie Koifman, Annette Feigenbaum, Weimin Bi, et al.American Journal of Obstetrics and Gynecology|September 15, 2005
Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility studyFionnuala M McAuliffe, Katherine W Fong, Ants Toi, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 10, 2006
Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depressionElena Kolomietz, Tawfeg Ben-Omran, David Chitayat, et al.American Journal of Medical Genetics. Part A|August 9, 2008
Williams syndrome in a preterm infant with phenotype of Alagille syndromePrakesh S Shah, Prashanth Murthy, David Skidmore, et al.Journal of Genetic Counseling|July 18, 2019
Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectivesEmily Thain, Cheryl Shuman, Kristen Miller, et al.Andrology|April 30, 2024
Intra-individual changes in sperm parameters and total motile count with time among infertile menGilad Karavani, Bader Akroof, Susan Lau, et al.American Journal of Obstetrics and Gynecology|September 19, 2002
Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomesDavid Chitayat, Sandra A Farrell, Tianhua Huang, et al.Human Genetics|November 4, 2008
Ataxia and pancytopenia caused by a mutation in TINF2Elena Tsangaris, Sally-Lin Adams, Grace Yoon, et al.American Journal of Medical Genetics. Part A|July 7, 2025
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5Yael Fisher, Orli Greenberg, Patrick Shannon, et al.Pediatric Transplantation|June 28, 2023
Heart transplantation in neonatal Marfan syndrome: Saving life in a rare and fatal conditionJessica A Laks, Aine Lynch, Osami Honjo, et al.Pageof 45