Results 71 to 80 of about 75,829 (126)

Augmenting Diagnostic Yield From Genomic Sequencing. [PDF]

Neurol Genet
Wojcik MH, Ganesh V.
europepmc   +1 more source

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding. [PDF]

BMC Med Genomics
León-Sanabria MC, Zarante-Bahamón AM.
europepmc   +1 more source

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report. [PDF]

Front Neurol
Granger K, Do C, Quindipan C, Schmidt R, Borchert MS, Nagiel A, Chang MY.   +6 more
europepmc   +1 more source

Expanding the Spectrum of <i>BCAP31</i>-Associated Diseases: Early-Onset Parkinson Disease. [PDF]

Neurol Genet
Ishiguro M, Funayama M, Park DH, Hatano T, Nakazato T, Luo Y, Osawa M, Li Y, Yoshino H, Hattori N, Kanai K.   +10 more
europepmc   +1 more source

Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysis.

Lancet Neurol
Parks CA, Singh M, Wohler E, Martin R, Peeters S, Juzwiak EE, Sun X, Loeys BL, Sobreira N, Baldock C, Schievink WI, Dietz HC.   +11 more
europepmc   +1 more source

Sex-aware genome-wide assessment of de novo variants in autism across coding and noncoding regions. [PDF]

Hum Genomics
Turner TN.
europepmc   +1 more source

Parent/caregiver needs during pediatric genome-wide sequencing: A scoping literature review. [PDF]

J Genet Couns
Murali P, Yu JH.
europepmc   +1 more source

Diagnostic yield of long-read sequencing for rare diseases: a systematic review. [PDF]

Front Genet
Ibrahim AA, Fakhro KA, Abdallah AM.
europepmc   +1 more source

The Role of the Pediatric Pharmacist in Precision Medicine and Clinical Pharmacogenomics for Children. [PDF]

J Pediatr Pharmacol Ther
Cook KJ, Duong BQ, Kim H, Lamb N, Nguyen JQ.   +4 more
europepmc   +1 more source

Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report. [PDF]

Front Genet
Al-Younis I, Basque L, Crapoulet N, Dyack S, Del Caño-Ochoa F, Ramón-Maiques S, MacKay SB, Rzasa J, Sadikovic B, McConkey H, Ben Amor M.   +10 more
europepmc   +1 more source