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American Journal of Medical Genetics|September 5, 2002
Further delineation of cardiac abnormalities in Costello syndromeAngela E Lin, Paul D Grossfeld, Robert M Hamilton, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 16, 2011
Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosisPaula C Goldenberg, Monica E Calkins, Jan Richard, et al.
Journal of Clinical Immunology|February 3, 2023
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 DuplicationsDharmagat Bhattarai, Daniel E McGinn, T Blaine Crowley, et al.
American Journal of Medical Genetics|April 9, 1996
Neuropsychiatry of 18q- syndromeR N Mahr, P J Moberg, J Overhauser, et al.
Genes|October 27, 2022
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion SyndromeDaniel E McGinn, T Blaine Crowley, Tracy Heung, et al.
The Journal of Thoracic and Cardiovascular Surgery|March 22, 2017
Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation birthsAmy H Schultz, Richard F Ittenbach, Marsha Gerdes, et al.
Genes|February 26, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG SyndromeAiko Iwata-Otsubo, Alyssa L Rippert, Jorune Balciuniene, et al.
Prenatal Diagnosis|March 18, 2024
Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndromeKimberly B Gaiser, Erica M Schindewolf, Laura J Conway, 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.
American Journal of Medical Genetics. Part A|March 22, 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literatureVishnu Anand Cuddapah, Holly A Dubbs, Laura Adang, et al.
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