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American Journal of Medical Genetics. Part A|November 4, 2004
Symptomatic Chiari I malformation in Kabuki syndromeKaren L Ciprero, Jill Clayton-Smith, Dian Donnai, et al.
American Journal of Medical Genetics. Part A|May 12, 2005
Immune abnormalities are a frequent manifestation of Kabuki syndromeJodi D Hoffman, Karen L Ciprero, Kathleen E Sullivan, et al.
International Immunopharmacology|August 26, 2021
Dupilumab pharmacokinetics in Chinese healthy subjects and patients with atopic dermatitis: Results of two randomized, double-blind, placebo-controlled studiesPierre-François Clot, Mohamed Kamal, Jing Sun, et al.
Human Genetics|April 10, 2002
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyJeffrey E Ming, Michelle E Kaupas, Erich Roessler, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 6, 2018
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephalyTommy Hu, Paul Kruszka, Ariel F Martinez, et al.
Advances in Therapy|May 18, 2020
Implementation of a Reference-Scaled Average Bioequivalence Approach for Highly Variable Acetylsalicylic Acid in Fixed-Dose Combination with Clopidogrel Versus Enteric Aspirin in Chinese Subjects Under Fasting Conditions: A Phase 1, Open-Label, Randomized, Crossover StudyLu Wang, Yujing Di, Tingting Guo, et al.
Human Mutation|April 19, 2006
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arraysJeffrey E Ming, Elizabeth Geiger, Alison C James, et al.
Human Molecular Genetics|May 15, 2015
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain developmentPeter M Van Laarhoven, Leif R Neitzel, Anita M Quintana, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 29, 2003
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like featuresErich Roessler, Yang-Zhu Du, Jose L Mullor, et al.
American Journal of Medical Genetics. Part A|March 3, 2015
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)David D Weaver, Audrey R Norby, Jill A Rosenfeld, et al.
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