Results 81 to 90 of about 636,539 (164)

Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization. [PDF]

Genet Med Open
Le C, Tatunay K, Liu W, Lu H, Rodis NA, Nam T, Laurino MY, Dubard-Gault ME.   +7 more
europepmc   +1 more source

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. [PDF]

J Pediatr Endocrinol Metab, 2015
Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Hattersley AT, Flanagan SE, Ellard S.   +7 more
europepmc   +1 more source

Single center experience developing sustainable genetics clinical care: a model to address workforce challenges in medical genetics. [PDF]

Curr Opin Pediatr
Kinney A, Dalton SA, McCarrier J, Basel D.   +3 more
europepmc   +1 more source

Peutz-Jeghers Syndrome: A Comprehensive Review of Genetics, Clinical Features, and Management Approaches. [PDF]

Cureus
Amru RL, Dhok A.
europepmc   +1 more source

Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease. Reply.

The Journal of Clinical Investigation
Vishal M. Gohil, Michael J. Petris, Francesc Palau   +2 more
doaj   +1 more source

Erratum: Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache [Corrigendum]. [PDF]

Appl Clin Genet
europepmc   +1 more source

Corrigendum to "Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance" by Jung et al. (J Korean Neurosurg Soc 68 : 338-349, 2025). [PDF]

J Korean Neurosurg Soc
europepmc   +1 more source

Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures. [PDF]

Clin Epigenetics
Koparir A, Kerkhof J, Rzasa J, Metzger E, Carbajal PB, Kolokotronis K, Koparir E, Jelting Y, Hofrichter MAH, Klepper J, König T, Runkel E, Prastyo WE, Deinlein J, Babic ND, Spiegler J, Stachelscheid N, Kunstmann E, Haaf T, Sadikovic B, Klopocki E.   +20 more
europepmc   +1 more source

Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience. [PDF]

Langenbecks Arch Surg
Burkart S, Sailer S, Körfer D, Marbach F, Spanjaard M, Hirsch S, Brennenstuhl H, Valentin I, Hinderhofer K, Dennig J, Kaufmann L, Schaaf CP, Böckler D, Dikow N, Hempel M, Erhart P.   +15 more
europepmc   +1 more source

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort. [PDF]

Genet Med
Matalon DR, Duker AL, Arriaga TM, Russell K, Mendez HR, Bonner DE, Harley ME, Singer-Berk M, Wojcik MH, Pais L, DiTroia S, O'Leary M, Cassini T, Ezell K, Niehaus AD, Kaplan J, Wargowski DS, Smid CJ, Longenecker ED, Rodriguez Barreto AM, Miller DE, Keefe AC, Calderwood L, Enns GM, Tekin M, Bivona SA, Vora NL, Gilmore KL, Khan TN, Davis EE, Wang AW, Khan S, Maddirevula S, Al Abdi L, Abuyousef O, Shamseldin HE, Alkhalifi S, Abdulwahab F, Alqahtani M, Alhumaidi ZA, Nadeef S, Al Hashem AM, Bakur K, Faqeih EA, Abdalla E, Clarke A, Fletcher E, Keng WT, Ousager LB, de Silva DC, Haniffa M, Mari F, Lam W, Campbell J, Homfray T, Nampoothiri S, Li C, Chaudhari BP, Truxal K, Genomics Research to Elucidate the Genetics of Rare Diseases consortium, Undiagnosed Diseases Network, Bernstein JA, Montgomery SB, Wheeler MT, Alkuraya FS, O'Donnell-Luria A, Jackson AP, Campbell IM, Ganesh VS, Robertson N, Lemire G.   +70 more
europepmc   +1 more source