Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Adi Albin"'
Autor:
Benjamin D. Solomon, Osnat Konen, Adi Albin-Kaplanski, Eli Sprecher, Paul Merlob, Karl-H. Grzeschik, Andrea Gat, Lea Sirota, Maximilian Muenke, Lina Basel-Vanagaite
Publikováno v:
Pediatric Dermatology. 29:89-95
Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57368d43af2a3dcccdd479b0d72be50c
https://doi.org/10.1111/j.1525-1470.2011.01403.x
https://doi.org/10.1111/j.1525-1470.2011.01403.x
Autor:
Adva Yeheskel, Nurit Magal, Ayelet Halevy, Adi Har-Zahav, Iris Noyman, Ziva Ben Neriah, Idit Maya, Efrat Birk, Lina Basel-Vanagaite, Gideon Rechavi, Metsada Pasmanik-Chor, Amos J. Simon, Gal Maydan, Rachel Straussberg, Mordechai Shohat, Adi Albin-Kaplanski
Publikováno v:
Journal of Medical Genetics. 48:383-389
Background This study reports on a hitherto undescribed autosomal recessive syndrome characterised by dysmorphic features and multiple congenital anomalies together with severe neurological impairment, chorea and seizures leading to early death, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e2252c93b36f9596e1cb0a122b792a6
https://doi.org/10.1136/jmg.2010.087114
https://doi.org/10.1136/jmg.2010.087114
Autor:
Dov Inbar, Lina Basel-Vanagaite, Adi Albin, Charles E. Schwartz, Efrat Birk, Adi Har-Zahav, Rachel Straussberg, Frank O. Bartel, Daphna Marom
Publikováno v:
American journal of medical genetics. Part A. (8)
We describe a consanguineous Israeli Arab kindred with five males in two interrelated families with intellectual disabilities, alacrima, achalasia, and mild autonomic dysfunction. Adrenal function is normal. Their phenotype is similar to the phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::398f18a1109f2a7883464f1c172c66a4
https://pubmed.ncbi.nlm.nih.gov/21744492
https://pubmed.ncbi.nlm.nih.gov/21744492
Autor:
Adi Har Zahav, Adam D. McIntyre, Edward A. Fisher, Corina Haartman, Metsada Pasmanik-Chor, Robert A. Hegele, Gideon Rechavi, Raanan Shamir, Daphna Marom, Lina Basel-Vanagaite, Mordechai Shohat, Jian Wang, Liang Guo, Noam Zevit, Saj Parathath, Adi Albin-Kaplanski, Amos J. Simon
Publikováno v:
Gastroenterology. 142:S-143
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dab1321a3b8d9fc2ec73c47ed8860492
https://doi.org/10.1016/s0016-5085(12)60538-1
https://doi.org/10.1016/s0016-5085(12)60538-1
Autor:
Nurit Magal, Laurence Colleaux, Mordechai Shohat, Noa Shoshani, Metsada Pasmanik-Chor, Gal Maydan, Efrat Birk, Adi Albin, Christopher A. Walsh, Doron Gothelf, Adi Har-Zahav, Konrad Noben-Trauth, Liora Kornreich, Peter Wang, Amos J. Simon, Lina Basel-Vanagaite, Chiara Manzini, Gideon Rechavi, Limor Rainshtein, David J. Tischfield, Idit Maya, Yair Morad
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 87 (5), pp.694-700. ⟨10.1016/j.ajhg.2010.10.005⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 87 (5), pp.694-700. ⟨10.1016/j.ajhg.2010.10.005⟩
Intellectual disability (ID) affects 1%-3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe83291c09e3cb7da32d405f4ed08d8