Search research articles
Contact Us
Filters
Showing results (21-30 of 175) with videos related to
Page
of 18
Sort By:
Prenatal Diagnosis
|
April 6, 2004
Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy
Sigi Rotmensch, Claudio Celentano, Oscar Sadan, et al.
Scientific Reports
|
January 8, 2022
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease
Avi Fellner, Yael Goldberg, Dorit Lev, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2003
A new autosomal recessive syndrome with Zellweger-like manifestations
Joe K Ahn, Dorit Lev, Esther Leshinsky-Silver, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 15, 2011
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7
Orna Vardi, Michael Davidovitch, Chana Vinkler, et al.
European Journal of Medical Genetics
|
November 6, 2019
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene
Michal Gafner, Marina Michelson, Keren Yosovich, et al.
JIMD Reports
|
November 18, 2020
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency
Talia Jacobi-Polishook, Naama Yosha-Orpaz, Yair Sagi, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|
February 21, 2015
Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination
Ofer Isakov, Dorit Lev, Lubov Blumkin, et al.
Harefuah
|
April 29, 2010
[Developmental outcome of fetal macrocephaly and associated syndromes]
Yael Biran-Gol, Tally Lerman-Sagie, Dorit Lev, et al.
Journal of Child Neurology
|
January 26, 2010
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation
Lubov Blumkin, Marina Michelson, Esther Leshinsky-Silver, et al.
American Journal of Medical Genetics. Part A
|
November 5, 2011
Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia
Ayelet Zerem, Chana Vinkler, Marina Michelson, et al.
Page
of 18
Search research articles
Search
Showing results (21-30 of 175) with videos related to
Sort By:
Page
of 18
Prenatal Diagnosis
|
April 6, 2004
Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy
Sigi Rotmensch, Claudio Celentano, Oscar Sadan, et al.
Scientific Reports
|
January 8, 2022
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease
Avi Fellner, Yael Goldberg, Dorit Lev, et al.
American Journal of Medical Genetics. Part A
|
June 5, 2003
A new autosomal recessive syndrome with Zellweger-like manifestations
Joe K Ahn, Dorit Lev, Esther Leshinsky-Silver, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
July 15, 2011
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7
Orna Vardi, Michael Davidovitch, Chana Vinkler, et al.
European Journal of Medical Genetics
|
November 6, 2019
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene
Michal Gafner, Marina Michelson, Keren Yosovich, et al.
JIMD Reports
|
November 18, 2020
Successful pregnancy in a patient with mitochondrial cardiomyopathy due to ACAD9 deficiency
Talia Jacobi-Polishook, Naama Yosha-Orpaz, Yair Sagi, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao
|
February 21, 2015
Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination
Ofer Isakov, Dorit Lev, Lubov Blumkin, et al.
Harefuah
|
April 29, 2010
[Developmental outcome of fetal macrocephaly and associated syndromes]
Yael Biran-Gol, Tally Lerman-Sagie, Dorit Lev, et al.
Journal of Child Neurology
|
January 26, 2010
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation
Lubov Blumkin, Marina Michelson, Esther Leshinsky-Silver, et al.
American Journal of Medical Genetics. Part A
|
November 5, 2011
Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia
Ayelet Zerem, Chana Vinkler, Marina Michelson, et al.
Page
of 18