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Human Genetics|February 17, 2010
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephalyUte Hehr, Daniel E Pineda-Alvarez, Goekhan Uyanik, et al.
European Journal of Human Genetics : EJHG|May 18, 2017
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delayKarin Weiss, Kristen Wigby, Madeleine Fannemel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 25, 2022
Scoping review and classification of deep learning in medical geneticsSuzanna E Ledgister Hanchard, Michelle C Dwyer, Simon Liu, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?Paul Kruszka, Annette Uwineza, Leon Mutesa, et al.
Biological Psychiatry|September 5, 2006
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility lociMahim Jain, Luis Guillermo Palacio, F Xavier Castellanos, et al.
Orphanet Journal of Rare Diseases|July 16, 2025
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionalsBehnam Javanmardi, Rebekah L Waikel, Tinatin Tkemaladze, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Analysis of component findings in 79 patients diagnosed with VACTERL associationBenjamin D Solomon, Daniel E Pineda-Alvarez, Manu S Raam, et al.
Science Advances|January 18, 2020
PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephalySlim Mzoughi, Federico Di Tullio, Diana H P Low, et al.
The Journal of Pediatrics|June 2, 2015
Executive Function and Adaptive Behavior in Muenke SyndromeColin M P Yarnell, Yonit A Addissie, Donald W Hadley, et al.
Journal of the American Academy of Child and Adolescent Psychiatry|November 27, 2004
Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational familiesJuan D Palacio, F Xavier Castellanos, David A Pineda, et al.
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