Wispy, dystrophic hair in a pediatric patient: Expanding the differential with tricho-dento-osseus syndrome. [PDF]
JAAD Case RepChernyak M, Sargent B, Zadeh N, Lee BA.
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Growth hormone deficiency in three siblings homozygous for a rare <i>GH1</i> haplotype. [PDF]
Front Endocrinol (Lausanne)Ribeiro AC +3 more
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Recurrent severe infections in a child with <i>STAT3</i>-associated hyper-IgE syndrome. [PDF]
JAAD Case RepAsifa NN +7 more
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Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report. [PDF]
Case Rep DentSaygili S, Kasimoglu Y.
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Optical genome mapping of a complex structural rearrangement family line on chromosome 18. [PDF]
HereditasCai L, Jiang Y, Zhang N, Chen X.
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A Case of Horizontal Gaze Palsy With Progressive Scoliosis and G6PD Deficiency in a Child. [PDF]
CureusKaur P, Yadav S.
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Genetic Diversity and Mutation Frequency Databases in Ethnic Populations: Systematic Review. [PDF]
JMIR Bioinform BiotechnolKhan S +8 more
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Geneticization in the genomic era: a scoping review of ethical, clinical, and sociocultural transformations. [PDF]
Front SociolShaheen S, Ghaly M.
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Genetic predisposition and the impact of missense genetic variants on the structural and functional protein dynamics in idiopathic pulmonary fibrosis. [PDF]
Lung IndiaBarney AM +8 more
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NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders. [PDF]
Front NeurosciManjunath U +6 more
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