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American Journal of Medical Genetics. Part A|April 23, 2015
Frontometaphyseal dysplasia and keloid formation without FLNA mutationsHanneke Basart, Annekatrien van de Kar, Lesley Adès, et al.
European Journal of Human Genetics : EJHG|June 11, 2009
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cellsJet Bliek, Marielle Alders, Saskia M Maas, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|July 5, 2017
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and HepatoblastomaJennifer M Kalish, Leslie Doros, Lee J Helman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2019
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locusFederica Maria Valente, Angela Sparago, Andrea Freschi, et al.
Clinical Obesity|April 10, 2024
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesityLotte Kleinendorst, Ozair Abawi, Niels Vos, et al.
The Journal of Allergy and Clinical Immunology|August 20, 2021
Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)Dorit Verhoeven, Dieneke Schonenberg-Meinema, Frédéric Ebstein, et al.
Research Square|April 10, 2023
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
American Journal of Medical Genetics. Part A|June 3, 2015
Etiology and pathogenesis of robin sequence in a large Dutch cohortHanneke Basart, Emma C Paes, Saskia M Maas, et al.
Scientific Reports|August 10, 2023
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndromeAfif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, et al.
European Journal of Human Genetics : EJHG|December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndromeJet Bliek, Gaetano Verde, Jonathan Callaway, et al.
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