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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Pontocerebellar Hypoplasia Type 1[original query]
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Orphanet journal of rare diseases 2014 9 (1): 23.
Eggens Veerle Rc, Barth Peter G, Niermeijer Jikke-Mien F, Berg Jonathan N, Darin Niklas, Dixit Abhijit, Fluss Joel, Foulds Nicola, Fowler Darren, Hortobágyi Tibor, Jacques Thomas, King Mary D, Makrythanasis Periklis, Máté Adrienn, Nicoll James A R, O'Rourke Declan, Price Sue, Williams Andrew N, Wilson Louise, Suri Mohnish, Sztriha Laszlo, Dijns-de Wissel Marit B, van Meegen Mia T, van Ruissen Fred, Aronica Eleonora, Troost Dirk, Majoie Charles Blm, Marquering Henk A, Poll-Thé Bwee Tien, Baas Fra
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
European journal of medical genetics 2020 5 63 (7): 103938.
Laugwitz Lucia, Buchert Rebecca, Groeschel Samuel, Riess Angelika, Grimmel Mona, Beck-Wödl Stefanie, Sturm Marc, Gohla Georg, Döbler-Neumann Marion, Krägeloh-Mann Ingeborg, Haack Tobias
Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7.
Genes & diseases 2024 11 12 (1): 101290.
Aijun Yang, Xiaoli Kong, Qin Wang, Runqing Miao, Haixiang Ma, Anzhuo Chu, Zhengtong Wang, Jiaqing Lu, Bo Liu, Bingcheng Mu, Runhan Guo, Jiayi Li, Xiaoxiao Gongye, Huabao Xiong, Tao Zho
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