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American Journal of Medical Genetics. Part A
|
February 23, 2021
The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?
Idit Maya, Sarit Kahana, Ifaat Agmon-Fishman, et al.
Pediatric Neurology
|
May 29, 2012
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12
Ayelet Halevy, Lina Basel-Vanagaite, Avinoam Shuper, et al.
Pediatric Neurology
|
October 3, 2013
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2
Shlomit Hellman-Aharony, Pola Smirin-Yosef, Ayelet Halevy, et al.
Journal of Perinatal Medicine
|
September 16, 2017
Cytogenetic analysis in fetuses with late onset abnormal sonographic findings
Ron Bardin, Eran Hadar, Lylach Haizler-Cohen, et al.
Human Genetics
|
July 20, 2019
The rare 13q33-q34 microdeletions: eight new patients and review of the literature
Lena Sagi-Dain, Yael Goldberg, Amir Peleg, et al.
Archives of Gynecology and Obstetrics
|
January 27, 2022
Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects
Liat Salzer-Sheelo, Uri Polak, Ayelet Barg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 18, 2020
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation
Lina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Obstetrics and Gynecology
|
November 7, 2018
Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies
Lena Sagi-Dain, Idit Maya, Adi Reches, et al.
Journal of Medical Genetics
|
April 16, 2011
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Gal Maydan, Iris Noyman, Adi Har-Zahav, et al.
Prenatal Diagnosis
|
February 14, 2024
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study
Rachel Michaelson-Cohen, Liat Sheelo Salzer, Dana Brabbing-Goldstein, et al.
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of 7
Search research articles
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Showing results (51-60 of 67) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics. Part A
|
February 23, 2021
The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?
Idit Maya, Sarit Kahana, Ifaat Agmon-Fishman, et al.
Pediatric Neurology
|
May 29, 2012
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12
Ayelet Halevy, Lina Basel-Vanagaite, Avinoam Shuper, et al.
Pediatric Neurology
|
October 3, 2013
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2
Shlomit Hellman-Aharony, Pola Smirin-Yosef, Ayelet Halevy, et al.
Journal of Perinatal Medicine
|
September 16, 2017
Cytogenetic analysis in fetuses with late onset abnormal sonographic findings
Ron Bardin, Eran Hadar, Lylach Haizler-Cohen, et al.
Human Genetics
|
July 20, 2019
The rare 13q33-q34 microdeletions: eight new patients and review of the literature
Lena Sagi-Dain, Yael Goldberg, Amir Peleg, et al.
Archives of Gynecology and Obstetrics
|
January 27, 2022
Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects
Liat Salzer-Sheelo, Uri Polak, Ayelet Barg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 18, 2020
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation
Lina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Obstetrics and Gynecology
|
November 7, 2018
Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies
Lena Sagi-Dain, Idit Maya, Adi Reches, et al.
Journal of Medical Genetics
|
April 16, 2011
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Gal Maydan, Iris Noyman, Adi Har-Zahav, et al.
Prenatal Diagnosis
|
February 14, 2024
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study
Rachel Michaelson-Cohen, Liat Sheelo Salzer, Dana Brabbing-Goldstein, et al.
Page
of 7