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The Israel Medical Association Journal : IMAJ
|
August 9, 2017
Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis
Yackov Berkun, Reeval Segel, Paulina Navon-Elkan
American Journal of Medical Genetics. Part A
|
July 1, 2022
Carrier screening for Krabbe disease in an isolated inbred community
Shlomit Ezer, Shachar Zuckerman, Reeval Segel, et al.
The New England Journal of Medicine
|
August 2, 2014
Mutant ADA2 in vasculopathies
Reeval Segel, Mary-Claire King, Ephrat Levy-Lahad
Journal of Child Neurology
|
April 25, 2018
Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion
Tal Gilboa, Reeval Segel, Sharon Zeligson, et al.
Harefuah
|
January 16, 2007
[Clinical, biochemical and molecular characterization of rare genetic disorders, related to nucleotide excision repair (NER) system]
Tzipora Falik-Zaccai, Nechama Kfir, Meital Laskar, et al.
American Journal of Obstetrics and Gynecology
|
May 30, 2021
The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening
Lena Sagi-Dain, Amihood Singer, Reeval Segel, et al.
Clinical Dysmorphology
|
July 7, 2021
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome
Hagit Goldenstein, Sara Beni Shrem, Omri Weiss, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2006
The natural history of trisomy 12p
Reeval Segel, Inga Peter, Laurie A Demmer, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2009
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?
Reeval Segel, Ephrat Levy-Lahad, Francesca Pasutto, et al.
Journal of Inherited Metabolic Disease
|
May 25, 2011
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
Ann Saada, Shimon Edvardson, Avraham Shaag, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 54) with videos related to
Sort By:
Page
of 6
The Israel Medical Association Journal : IMAJ
|
August 9, 2017
Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis
Yackov Berkun, Reeval Segel, Paulina Navon-Elkan
American Journal of Medical Genetics. Part A
|
July 1, 2022
Carrier screening for Krabbe disease in an isolated inbred community
Shlomit Ezer, Shachar Zuckerman, Reeval Segel, et al.
The New England Journal of Medicine
|
August 2, 2014
Mutant ADA2 in vasculopathies
Reeval Segel, Mary-Claire King, Ephrat Levy-Lahad
Journal of Child Neurology
|
April 25, 2018
Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion
Tal Gilboa, Reeval Segel, Sharon Zeligson, et al.
Harefuah
|
January 16, 2007
[Clinical, biochemical and molecular characterization of rare genetic disorders, related to nucleotide excision repair (NER) system]
Tzipora Falik-Zaccai, Nechama Kfir, Meital Laskar, et al.
American Journal of Obstetrics and Gynecology
|
May 30, 2021
The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening
Lena Sagi-Dain, Amihood Singer, Reeval Segel, et al.
Clinical Dysmorphology
|
July 7, 2021
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome
Hagit Goldenstein, Sara Beni Shrem, Omri Weiss, et al.
American Journal of Medical Genetics. Part A
|
February 28, 2006
The natural history of trisomy 12p
Reeval Segel, Inga Peter, Laurie A Demmer, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2009
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?
Reeval Segel, Ephrat Levy-Lahad, Francesca Pasutto, et al.
Journal of Inherited Metabolic Disease
|
May 25, 2011
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
Ann Saada, Shimon Edvardson, Avraham Shaag, et al.
Page
of 6