Zobrazeno 1 - 5
of 5
pro vyhledávání: '"H N, Baris"'
Autor:
N, Ekhilevitch, A, Kurolap, D, Oz-Levi, A, Mory, T, Hershkovitz, G, Ast, H, Mandel, H N, Baris
Publikováno v:
Clinical genetics. 90(1)
Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous nonprogressive multiple joint contractures appearing at birth. We present a consanguineous Israeli-Druze family with several members presenting with AMC. A variable intra-fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5601c5be8c9945bb51c9f3669fc08cdf
https://pubmed.ncbi.nlm.nih.gov/26661508
https://pubmed.ncbi.nlm.nih.gov/26661508
Autor:
Z, Levi, R, Kariv, I, Barnes-Kedar, Y, Goldberg, E, Half, S, Morgentern, B, Eli, H N, Baris, A, Vilkin, R G, Belfer, Y, Niv, R, Elhasid, R, Dvir, N, Abu-Freha, S, Cohen
Publikováno v:
Clinical genetics. 88(5)
Data on the clinical presentation of constitutional mismatch repair deficiency syndrome (CMMRD) is accumulating. However, as the extraintestinal manifestations are often fatal and occur at early age, data on the systematic evaluation of the gastroint
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::262a5642895500e9d083fbd23a0a6f3c
https://pubmed.ncbi.nlm.nih.gov/25307252
https://pubmed.ncbi.nlm.nih.gov/25307252
Autor:
Y, Goldberg, I, Barnes-Kedar, I, Lerer, N, Halpern, M, Plesser, A, Hubert, L, Kadouri, H, Goldshmidt, I, Solar, H, Strul, G, Rosner, H N, Baris, T, Peretz, Z, Levi, R, Kariv
Publikováno v:
Clinical genetics. 87(6)
Diagnosis of Lynch syndrome (LS) may be complex. Knowledge of mutation spectrum and founder mutations in specific populations facilitates the diagnostic process. Aim of the study is to describe genetic features of LS in the Israeli population and rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e0262fea4e1dd147b9bad099abe5daf7
https://pubmed.ncbi.nlm.nih.gov/25430799
https://pubmed.ncbi.nlm.nih.gov/25430799
Autor:
O, Melamed, D M, Behar, C, Bram, N, Magal, E, Pras, H, Reznik-Wolf, Z U, Borochowitz, B, Davidov, R, Mor-Cohen, H N, Baris
Publikováno v:
Clinical genetics. 87(2)
Huntington disease (HD), an autosomal dominant disorder involving HTT, is characterized by chorea, psychiatric illness and cognitive decline. Diagnosis and age of onset depend on the degree of expansion of the trinucleotide CAG repeat within the gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2994c3c886ed078287837224e8224e23
https://pubmed.ncbi.nlm.nih.gov/24405192
https://pubmed.ncbi.nlm.nih.gov/24405192
Autor:
Ingo Meuthen, Janet Kerwin, Teresa de Berardinis, Alfons Meindl, Costantino Schiavi, Robyn V. Jamieson, Christina Pieh, Hagit N. Baris, Bettina Wabbels, Feray Koc, Wei He, Scott L. Pomeroy, Maree Flaherty, Joseph L. Demer, David A. Mackey, Emin Cumhur Sener, Jonathan B Ruddle, Lionel Van Maldergem, Louise J. Sabol, Susan Lindsay, Nicolas Uzcategui, Irene Gottlob, David F. Callen, Max A. Tischfield, Richard L. Robertson, Clara E. de Uzcategui, Thomas D. Bird, Janet S. Soul, Alex V. Levin, Marco Pastore-Trossello, Thomas Meitinger, Hans Ulrik Møller, Elizabeth C. Engle, Mary Louise Z. Collins, David G. Hunter, Maria Descartes, Edward J. Doherty, Mohan L. Gupta, Adriano Magli, Agnes M. F. Wong, Caroline Andrews, Chen Wu, Elias I. Traboulsi, Wai-Man Chan, Michael T. Geraghty, David Pellman, Anna Newlin, G. Rudolph, Heide Hellebrand
none 49 We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation causes the ocular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b601b8af477f5b7fbdfc8f57b962a518
http://hdl.handle.net/11585/89525
http://hdl.handle.net/11585/89525
