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American Journal of Medical Genetics. Part A|August 19, 2024
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature reviewAlex F Nisbet, Aravind Viswanathan, Andrew M George, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 15, 2020
A six-attribute classification of genetic mosaicismVíctor Martínez-Glez, Jair Tenorio, Julián Nevado, et al.
Epigenomics|July 3, 2018
Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platformJose R Hernandez Mora, Chiharu Tayama, Marta Sánchez-Delgado, et al.
Thyroid : Official Journal of the American Thyroid Association|May 17, 2024
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZBeatriz Villafuerte, Carlos Carrasco-López, Amanda Herranz, et al.
American Journal of Medical Genetics. Part A|April 3, 2025
A Novel Deep Intronic Variant in NSD1 Causing Sotos SyndromeAlejandro Parra, Mario Cazalla, Juan A Jimenez-Estrada, et al.
Medrxiv : the Preprint Server for Health Sciences|December 9, 2024
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
Journal of Medical Genetics|February 13, 2021
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndromeJoan Sabria-Back, Ana Monteagudo-Sánchez, Marta Sánchez-Delgado, et al.
Human Mutation|July 15, 2025
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.
International Journal of Antimicrobial Agents|July 8, 2019
Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish populationIrene Dapía, Irene García, Jose Carlos Martinez, et al.
American Journal of Medical Genetics. Part A|October 29, 2022
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studiesLuis Francisco González Álvarez, Jair Tenorio-Castaño, Fernando A Poletta, et al.
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