Search research articles
Contact Us
Filters
Showing results (11-20 of 19) with videos related to
Page
of 2
Sort By:
You have reached the last page of results.
This site can display upto 19 results.
Frontiers in Pediatrics
|
June 3, 2022
A Novel Homozygous Missense Variant in the <i>LRRC32</i> Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay
Zufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, et al.
Plos One
|
May 3, 2017
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
Lucia Abela, Ronen Spiegel, Lisa M Crowther, et al.
European Thyroid Journal
|
June 28, 2021
High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism
Tal Almagor, Shoshana Rath, Dan Nachtigal, et al.
Metabolic Brain Disease
|
January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review
Yoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Endocrine Connections
|
May 19, 2021
The evolving role of whole-exome sequencing in the management of disorders of sex development
Yardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, et al.
The Pediatric Infectious Disease Journal
|
October 14, 2015
Severe Acute Mastoiditis Admission is Not Related to Delayed Antibiotic Treatment for Antecedent Acute Otitis Media
Zachi Grossman, Yoav Zehavi, Eugene Leibovitz, et al.
Clinical Genetics
|
July 23, 2021
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes
Morad Khayat, Nada Danial-Farran, Elena Chervinsky, et al.
Orphanet Journal of Rare Diseases
|
September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel
Eyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.
American Journal of Human Genetics
|
March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 19) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 19 results.
Frontiers in Pediatrics
|
June 3, 2022
A Novel Homozygous Missense Variant in the <i>LRRC32</i> Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay
Zufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, et al.
Plos One
|
May 3, 2017
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
Lucia Abela, Ronen Spiegel, Lisa M Crowther, et al.
European Thyroid Journal
|
June 28, 2021
High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism
Tal Almagor, Shoshana Rath, Dan Nachtigal, et al.
Metabolic Brain Disease
|
January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review
Yoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Endocrine Connections
|
May 19, 2021
The evolving role of whole-exome sequencing in the management of disorders of sex development
Yardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, et al.
The Pediatric Infectious Disease Journal
|
October 14, 2015
Severe Acute Mastoiditis Admission is Not Related to Delayed Antibiotic Treatment for Antecedent Acute Otitis Media
Zachi Grossman, Yoav Zehavi, Eugene Leibovitz, et al.
Clinical Genetics
|
July 23, 2021
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes
Morad Khayat, Nada Danial-Farran, Elena Chervinsky, et al.
Orphanet Journal of Rare Diseases
|
September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel
Eyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.
American Journal of Human Genetics
|
March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Page
of 2