Results 71 to 80 of about 224,806 (164)

Heart rate phase is an indicator of chronotype-relevant circadian shifts associated with human disease: an All of Us Research Program analysis. [PDF]

J Physiol
Chan ZM, Patel PP, Levitsky GM, McClung CA, Nouraie SM, Kelly NJ.   +5 more
europepmc   +1 more source

Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity. [PDF]

Clin Case Rep
Pellegrin MC, Tamaro G, Fachin A, Barbi E, Tornese G.   +4 more
europepmc   +1 more source

Chromosome 17q12 deletion, including <i>HNF1B</i> presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report. [PDF]

AJOG Glob Rep
Boe N, Hedriana H, Singh K.
europepmc   +1 more source

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders. [PDF]

Genome Med
Ek M, Kvarnung M, Ten Berk de Boer E, La Fleur L, Ljöstad L, Lyander A, Faergeman SL, Drue SO, Thonberg H, Nordgren A, Soller MJ, Wirta V, Eisfeldt J, Lindstrand A.   +13 more
europepmc   +1 more source

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review. [PDF]

Int J Mol Sci
Butler MG.
europepmc   +1 more source

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +1 more source

Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes. [PDF]

Sci Rep
Butt AI, Bazai FK, Kakar K, Daud S, Seo GH, Ahmad J, Naz S.   +6 more
europepmc   +1 more source

A case report on atypical chromosomal variations in Turner syndrome. [PDF]

Mol Cytogenet
Aliazami F, Farhud DD, Zarif-Yeganeh M, Shahmoradi SS, Tajik B, Jaryani S.   +5 more
europepmc   +1 more source

Semaglutide Plus Low-Dose Metformin Combination Therapy for the Treatment of Obesity and Prediabetes in a Woman with Partial Deletion of the X Chromosome Long Arm. [PDF]

Reports (MDPI)
Marzolla V, Gorini S, Caprio M, Infante M.   +3 more
europepmc   +1 more source

Jacob's Syndrome and Hearing Loss: A Case Study. [PDF]

Clin Case Rep
Bagheri H, Kouhi A, Alidoust M, Koravand A.   +3 more
europepmc   +1 more source