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American Journal of Medical Genetics. Part A|August 18, 2017
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotypeEric T Rush, Craig V Baker, William B Rizzo
American Journal of Medical Genetics. Part A|October 20, 2017
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing lossJing Guan, Hongyang Wang, Lan Lan, et al.
American Journal of Medical Genetics. Part A|October 21, 2017
Defective ciliogenesis in INPP5E-related Joubert syndromeIsabel Hardee, Ariane Soldatos, Mariska Davids, et al.
American Journal of Medical Genetics. Part A|May 5, 2016
Influence of hearing loss and cognitive abilities on language development in CHARGE SyndromeAnnemarie Vesseur, Margreet Langereis, Rolien Free, et al.
American Journal of Medical Genetics. Part A|September 12, 2015
Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected malesSulman Basit, Omhani I Malibari, Alia M Al-Balawi, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiencyTaku Nakagawa, Mariko Taniguchi-Ikeda, Yoshiko Murakami, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behaviorRoberta L Dutra, Flavia B Piazzon, Évelin A Zanardo, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigueGry Velvin, Trine Bathen, Svend Rand-Hendriksen, et al.
American Journal of Medical Genetics. Part A|August 8, 2015
A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasiaLauren Hurd, Susan M Kirwin, Mary Boggs, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancerGiulia Severi, Laura Bernardini, Silvana Briuglia, et al.
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