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American Journal of Medical Genetics. Part A|May 16, 2019
Hereditary spastic paraplegia type 35 in a family from MaliGuida Landouré, Kékouta Dembélé, Lassana Cissé, et al.American Journal of Medical Genetics. Part A|May 2, 2019
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disordersAdam Truelove, Akhilesh Mulay, Matina Prapa, et al.American Journal of Medical Genetics. Part A|May 10, 2019
Homozygous variants in the gene SCAPER cause syndromic intellectual disabilityKimia Kahrizi, Mareike Huber, Danuta Galetzka, et al.American Journal of Medical Genetics. Part A|May 11, 2019
A report on state-wide implementation of newborn screening for X-linked AdrenoleukodystrophyKatie Wiens, Susan A Berry, Hyoung Choi, et al.American Journal of Medical Genetics. Part A|May 16, 2019
Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second reportHelen K Brittain, Johanna Feary, Mark Rosenthal, et al.American Journal of Medical Genetics. Part A|March 12, 2022
Sleep-disordered breathing in pediatric neurofibromatosis type 1Anna Bulian, Vincent Couloigner, Kahina Belhous, et al.American Journal of Medical Genetics. Part A|March 14, 2022
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measuresRebecca Fenster, Alban Ziegler, Catherine Kentros, et al.American Journal of Medical Genetics. Part A|March 22, 2022
Novel FGF9 variant contributes to multiple synostoses syndrome 3Stephanie M Dobson, Courtney Kiss, Daniel Borschneck, et al.American Journal of Medical Genetics. Part A|March 25, 2022
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish familyElifcan Taşdelen, Daniel G Calame, Gulsen Akay, et al.American Journal of Medical Genetics. Part A|March 7, 2022
A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalitiesAbdullah Sezer, Ferda Emriye Perçin, Hasan Huseyin Kazan, et al.Pageof 928