Search research articles
Contact Us
Filters
Showing results (81-90 of 176) with videos related to
Page
of 18
Sort By:
Neurogenetics
|
May 20, 2020
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival
Tamar Gur Hartman, Keren Yosovich, Hila Gur Michaeli, et al.
The Israel Medical Association Journal : IMAJ
|
March 21, 2006
Candidate gene polymorphism in cardiovascular disease: the BIP cohort
Esther Leshinsky-Silver, Suzanne Cheng, Michael A Grow, et al.
Hormone Research
|
May 31, 2006
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene
Esther Leshinsky-Silver, Zohar Landau, Sema Unlubay, et al.
American Journal of Medical Genetics. Part A
|
March 6, 2007
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms
Dorit Lev, Yuval Weigl, Mariana Hasan, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 16, 2010
Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation
Daniella Nishri, Lubov Blumkin, Dorit Lev, et al.
Neurogenetics
|
June 17, 2017
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, et al.
Genetic Testing
|
April 29, 2005
Automatic scanning of interphase FISH for prenatal diagnosis in uncultured amniocytes
Dorit Lev, Michal Daniely, Alex Zudik, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2012
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region
Marina Michelson, Anat Ben-Sasson, Chana Vinkler, et al.
American Journal of Medical Genetics. Part A
|
December 5, 2018
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations
Roee Birnbaum, Naama Yosha-Orpaz, Miri Yanoov-Sharav, et al.
Brain : a Journal of Neurology
|
May 31, 2018
Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus
Shira Sagie, Tally Lerman-Sagie, Snezana Maljevic, et al.
Page
of 18
Search research articles
Search
Showing results (81-90 of 176) with videos related to
Sort By:
Page
of 18
Neurogenetics
|
May 20, 2020
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival
Tamar Gur Hartman, Keren Yosovich, Hila Gur Michaeli, et al.
The Israel Medical Association Journal : IMAJ
|
March 21, 2006
Candidate gene polymorphism in cardiovascular disease: the BIP cohort
Esther Leshinsky-Silver, Suzanne Cheng, Michael A Grow, et al.
Hormone Research
|
May 31, 2006
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene
Esther Leshinsky-Silver, Zohar Landau, Sema Unlubay, et al.
American Journal of Medical Genetics. Part A
|
March 6, 2007
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms
Dorit Lev, Yuval Weigl, Mariana Hasan, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 16, 2010
Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation
Daniella Nishri, Lubov Blumkin, Dorit Lev, et al.
Neurogenetics
|
June 17, 2017
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, et al.
Genetic Testing
|
April 29, 2005
Automatic scanning of interphase FISH for prenatal diagnosis in uncultured amniocytes
Dorit Lev, Michal Daniely, Alex Zudik, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2012
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region
Marina Michelson, Anat Ben-Sasson, Chana Vinkler, et al.
American Journal of Medical Genetics. Part A
|
December 5, 2018
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations
Roee Birnbaum, Naama Yosha-Orpaz, Miri Yanoov-Sharav, et al.
Brain : a Journal of Neurology
|
May 31, 2018
Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus
Shira Sagie, Tally Lerman-Sagie, Snezana Maljevic, et al.
Page
of 18