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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Syndrome and RBM8A[original query]
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Human molecular genetics 2013 Jan .
Nguyen LS, Kim HG, Rosenfeld JA, Shen Y, Gusella JF, Lacassie Y, Layman LC, Shaffer LG, Gecz J
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.
International journal of laboratory hematology 2016 Jun .
Nicchia E, Giordano P, Greco C, De Rocco D, Savoia
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.
British journal of haematology 2017 Aug .
Manukjan Georgi, Bösing Hendrik, Schmugge Markus, Strauß Gabriele, Schulze Hara
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.
Molecular cytogenetics 2018 2 11 13.
Demir Eksi Durkadin, Shen Yiping, Erman Munire, Chorich Lynn P, Sullivan Megan E, Bilekdemir Meric, Y?lmaz Elanur, Luleci Guven, Kim Hyung-Goo, Alper Ozgul M, Layman Lawrence
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
NPJ genomic medicine 2019 4 30.
Lauhasurayotin Supanun, Cuvelier Geoff D, Klaassen Robert J, Fernandez Conrad V, Pastore Yves D, Abish Sharon, Rayar Meera, Steele MacGregor, Jardine Lawrence, Breakey Vicky R, Brossard Josee, Sinha Roona, Silva Mariana, Goodyear Lisa, Lipton Jeffrey H, Michon Bruno, Corriveau-Bourque Catherine, Sung Lillian, Shabanova Iren, Li Hongbing, Zlateska Bozana, Dhanraj Santhosh, Cada Michaela, Scherer Stephen W, Dror Yig
Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.
Hamostaseologie 2023 8 43 (4): 252-260.
Gabriele Strauss, Kristina Mott, Eva Klopocki, Harald Schul
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Genes 2023 10 14 (10): .
Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy
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