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American Journal of Medical Genetics. Part A|November 5, 2024
Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian InsufficiencyAnna Lokchine, Anne Bergougnoux, Nadège Servant, et al.
American Journal of Medical Genetics. Part A|November 6, 2024
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case SeriesSara Gracie, Prasannakumar Deshpande, Patrik Hollos, et al.
American Journal of Medical Genetics. Part A|November 1, 2024
CTNND1-Related Disorder: New Insight on Prenatal PhenotypeB Conti, C Di Napoli, S Hafdaoui, et al.
American Journal of Medical Genetics. Part A|October 30, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish AncestryRachel Rabin, Yoel Hirsch, Kevin T A Booth, et al.
American Journal of Medical Genetics. Part A|November 14, 2025
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier PhenotypesMaria K Haanpää, Chad R Haldeman-Englert, Marja Hietala, et al.
American Journal of Medical Genetics. Part A|November 14, 2025
A Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental DisorderTomoko Satake, Yasuhiro Kawai, Koki Nagai, et al.
American Journal of Medical Genetics. Part A|November 4, 2025
Two Novel Pediatric Cases of EIF4A2-Related Disorder With Refractory Infantile SpasmsJoseph Painter, Dmitriy Niyazov, Jeffrey B Russ
American Journal of Medical Genetics. Part A|October 13, 2025
New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri-Weill DyschondrosteosisValeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, et al.
American Journal of Medical Genetics. Part A|October 3, 2025
The Head Circumference Height Index (HCH-I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in ChildrenMoira S Cheung, Ruggero Lanzafame, Karen J Low, et al.
American Journal of Medical Genetics. Part A|October 13, 2025
Prevalence of Dysautonomic Symptoms in CHARGE Syndrome: A Pilot Study of 25 Individuals With CHARGE SyndromeKim Blake, Julia Morrison, Laura Burge, et al.
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