Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Tehila, Klopstock"'
Autor:
Alla Kuzminsky, Liora Sagi, Adi Aran, Luba Blumkin, Tehila Klopstock, Dorit Lev, Dafna Guttman, Lilach Shemer Meiri, Reeval Segel, Suleyman Gulsuner, Michal Yechieli, Mary Claire King, Varda Gross-Tsur, Aviva Fattal, Paul Renbaum, Hilla Ben-Pazi, Ephrat Lahad Levy, Sharon Zeligson, Nira Schneebaum Sender, Dorit Shmueli, Thomas J. Walsh, Amnon Lahad
Publikováno v:
Journal of Medical Genetics. 59:759-767
ObjectiveTo determine the yield of genetic diagnoses using chromosomal microarray (CMA) and trio whole exome sequencing (WES), separately and combined, among patients with cryptogenic cerebral palsy (CP).MethodsTrio WES of patients with prior CMA ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38651cbf030aa40871531f9535a83b74
https://doi.org/10.1136/jmedgenet-2021-107884
https://doi.org/10.1136/jmedgenet-2021-107884
Autor:
Ephrat Levy-Lahad, Sharon Zeligson, Carmit Avnon Ziv, Abdulsalam Abu-Libdeh, David Zangen, Paul Renbaum, Tehila Klopstock, Eran Lavi, Reeval Segel, Floris Levy-Khademi, Doron M. Behar, Boris Chertin, Tzvia Rosen, Shira Perlberg-Bengio, Fouad Zahdeh
Publikováno v:
Endocrine. 69:650-654
Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY disorders of sex development. In this study the clinical and molecular characteristics of three patients from cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7bf07982e4d6a37d603480ef3afe154
https://doi.org/10.1007/s12020-020-02327-z
https://doi.org/10.1007/s12020-020-02327-z
Autor:
Tehila Klopstock, Maha Abdulhadi-Atwan, Ariella Weinberg-Shukron, Ephrat Levy-Lahad, Paul Renbaum, David Zangen, Muna Sharaf
Publikováno v:
American Journal of Medical Genetics Part A. 182:1268-1272
Processing of Precursor RNA 1 (POP1) is a core protein component shared by two essential closely related eukaryotic ribonucleoprotein complexes: RNase MRP (the mitochondrial RNA processing ribonuclease) and RNase P. Recently, five patients harboring
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::949bd736d5c73d38a37d7d6610c65c00
https://doi.org/10.1002/ajmg.a.61538
https://doi.org/10.1002/ajmg.a.61538
Autor:
Eran, Lavi, Mahmud, Zighan, Abdulsalam, Abu Libdeh, Tehila, Klopstock, Ariella, Weinberg-Shukron, Pinchas, Renbaum, Ephrat, Levy-Lahad, David, Zangen
Publikováno v:
Pediatric endocrinology reviews : PER. 17(4)
Frasier syndrome (FS), a rare disease caused by inherited or de novo mutation in Wilm's Tumor suppressor gene 1 (WT1), is characterized by slow progressive nephropathy, XY gonadal dysgenesis (XY-DSD), and increased risk for gonadal tumors. Early chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7dfd7dbf4e39dd8d8c20adbea7a9ef98
https://pubmed.ncbi.nlm.nih.gov/32780953
https://pubmed.ncbi.nlm.nih.gov/32780953
Autor:
Floris, Levy-Khademi, Sharon, Zeligson, Eran, Lavi, Tehila, Klopstock, Boris, Chertin, Carmit, Avnon-Ziv, Abdulsalam, Abulibdeh, Paul, Renbaum, Tzvia, Rosen, Shira, Perlberg-Bengio, Fouad, Zahdeh, Doron M, Behar, Ephrat, Levy-Lahad, David, Zangen, Reeval, Segel
Publikováno v:
Endocrine. 69(3)
Mutations in the gene HSD17B3 encoding the 17-beta hydroxysteroid dehydrogenase 3 enzyme cause testosterone insufficiency leading to XY disorders of sex development. In this study the clinical and molecular characteristics of three patients from cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8e207beaab013948b3de3cecced0bff6
https://pubmed.ncbi.nlm.nih.gov/32372306
https://pubmed.ncbi.nlm.nih.gov/32372306