Results 251 to 260 of about 227,823 (308)

Homozygous <i>PTRHD1</i> Mutation in Intellectual Disability and Atypical Parkinsonism. [PDF]

Yale J Biol Med
Bölükbaşı EY, Mumtaz S, Afzal M, Shabbir RMK, Tolun A, Malik S.   +5 more
europepmc   +1 more source

A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing. [PDF]

Mol Genet Genomic Med
Kong F, Yin Z, Zhou H, Liu Z, Xie W.
europepmc   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Clinical relevance of mosaic variants detected by exome sequencing. [PDF]

J Allergy Clin Immunol
Ghosh R, Fazal Z, Oler AJ, Tokita MJ, Lewis KL, Paul AJ, Schmitz EG, Saucier N, Yan J, Kamen M, Seifert BA, NIAID Centralized Sequencing Program,, Klion AD, Khoury P, Delmonte OM, Notarangelo LD, Freeman AF, Zerbe CS, Uzel G, Metcalfe DD, Komarow HD, Carter MC, McDermott DH, Murphy PM, Olivier KN, Fuss I, Strober W, Rao VK, Bergerson JRE, Almeida de Jesus A, Goldbach-Mansky R, Al-Herz W, Holland SM, Cooper MA, Similuk MN, Walkiewicz MA.   +35 more
europepmc   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Distribution of Sequencing Coverage Gaps in Exomes and Genomes: Potential Implications for Diagnostic Accuracy in Neurodevelopmental Disorder Genes. [PDF]

Genes (Basel)
Iovino E, De Masi C, Ballestrazzi A, Mattiaccio A, Isidori F, Seri M, Pippucci T.   +6 more
europepmc   +1 more source

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. [PDF]

Nat Genet
Kim HI, DeBoever C, Walter K, Kalantzis G, Li C, Mozaffari SV, Kundu K, Jacobs BM, Mohammadi-Shemirani P, Musolf AM, Davitte JM, Aksit MA, Gafton J, Catalano KA, Dawed AY, Graham RR, Guo B, Gupta N, Heng TH, Hunt KA, Iyer V, Langenberg C, Lassen FH, MacArthur DG, Maher ER, Maroteau C, Newman WG, O'Rahilly S, Palmer DS, Popov I, Siddiqui MK, Simpson MA, Spreckley M, Wright J, Genes and Health Research Team, Del Angel G, Petrovski S, Holzinger ER, Maranville JC, Addis L, Turner RM, Estrada K, Longerich S, Howson JMM, Jamshidi Y, Fauman EB, Miller MR, Diogo D, Trembath RC, Finer S, Martin HC, van Heel DA.   +51 more
europepmc   +1 more source

Whole exome sequencing

, 2014
Bou de Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
openaire   +1 more source

Prenatal genetic diagnostics and postnatal outcomes of fetal auricular dysplasia. [PDF]

Arch Gynecol Obstet
Zhu Y, Han X, Ouyang X, Chu T, Li N, Yang J, Cheng X, Liu L.   +7 more
europepmc   +1 more source

Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review. [PDF]

J Infect Dis
Gélin M, Launay É, Vince N.
europepmc   +1 more source