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Results: 1-5 |
Results: 5

Authors: Basel-Vanagaite, Lina Zevit, Noam Har Zahav, Adi Guo, Liang
Citation: Basel-vanagaite, Lina et al., Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 49-60

Authors: Basel-Vanagaite, Lina Attia, Revital Ishida-Yamamoto, Akemi Rainshtein, Limor Amitai, Dan Ben Lurie, Raziel Pasmanik-Chor, Metsada Indelman, Margarita Zvulunov, Alex Saban, Shirley Magal, Nurit Sprecher, Eli Shohat, Mordechai
Citation: Basel-vanagaite, Lina et al., Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase, American journal of human genetics , 80(3), 2007, pp. 467-477

Authors: Basel-Vanagaite, Lina Hershkovitz, Tova Heyman, Eli
Citation: Basel-vanagaite, Lina et al., Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum, American journal of human genetics (Online) AJHG , 93(3), 2013, pp. 524-529

Authors: Birk, Efrat Har-Zahav, Adi Manzini, Chiara M. Pasmanik-Chor, Metsada Basel-Vanagaite, Lina
Citation: Birk, Efrat et al., SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 694-700

Authors: Basel-Vanagaite, Lina Dallapiccola, Bruno Ramirez-Solis, Ramiro
Citation: Basel-vanagaite, Lina et al., Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome, American journal of human genetics (Online) AJHG , 91(6), 2012, pp. 998-1010
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