Results 211 to 220 of about 118,150 (263)

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing. [PDF]

Hum Genome Var
Suga K, Sato H, Suzue M, Honma Y, Hayabuchi Y, Nakagawa R, Shinomiya K, Okamoto N, Inoue Y, Tsuchida N, Matsumoto N, Morino H, Izumi Y, Urushihara M.   +13 more
europepmc   +1 more source

Whole exome sequencing identified two novel mutations of <i>ACD</i> in Chinese patients with idiopathic pulmonary fibrosis. [PDF]

Front Cell Dev Biol
Cao GH, Yang H, Wang Q, Luo H, Fan LL, Liu L.   +5 more
europepmc   +1 more source

Diagnostic yield of clinical exome sequencing in patients with suspected hereditary neuropathy. [PDF]

Turk J Med Sci
Bekircan-Kurt CE, Arslan D, Güleray N, Erdem-Özdamar S, Balci-Hayta B, Tan E.   +5 more
europepmc   +1 more source

Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis. [PDF]

PLoS One
Zhou F, Li Y, Zhang J, Wang X.
europepmc   +1 more source

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis. [PDF]

Ann Med
Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, Boonchooduang N, Srisurapanont M.   +4 more
europepmc   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source