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American Journal of Medical Genetics. Part A
|
December 22, 2024
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia
Lisa M Karger, Bryn D Webb, Lisa Edelmann, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2021
Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy
Tania Ruiz Maya, Veronica Fettig, Lakshmi Mehta, et al.
The Journal of Molecular Diagnostics : JMD
|
March 20, 2017
Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA
Jennifer Reiner, Lisa Karger, Ninette Cohen, et al.
Advances in Genomics and Genetics
|
July 28, 2018
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation
Edith Schussler, Rita V Linkner, Jacob Levitt, et al.
European Journal of Medical Genetics
|
September 24, 2013
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1
Tracy Brandt, Leah Blanchard, Khyati Desai, et al.
The Journal of Craniofacial Surgery
|
July 30, 2014
Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade
Carolyn A Brydon, Julia Conway, Rochelle Kling, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2020
Headaches in hypermobility syndromes: A pain in the neck?
Anuj Malhotra, Anna Pace, Tania Ruiz Maya, et al.
Urology
|
September 30, 2008
Ovotesticular disorder of sexual development (true hermaphroditism)
Ann-Leslie Berger-Zaslav, Lakshmi Mehta, Jessy Jacob, et al.
Prenatal Diagnosis
|
January 26, 2025
Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation
Jun Liao, Naixin Xu, Harry Gao, et al.
Molecular Genetics & Genomic Medicine
|
June 21, 2019
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
Lisong Shi, Yan Bai, Yara Kharbutli, et al.
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of 5
Search research articles
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Showing results (11-20 of 45) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
December 22, 2024
Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia
Lisa M Karger, Bryn D Webb, Lisa Edelmann, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2021
Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy
Tania Ruiz Maya, Veronica Fettig, Lakshmi Mehta, et al.
The Journal of Molecular Diagnostics : JMD
|
March 20, 2017
Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA
Jennifer Reiner, Lisa Karger, Ninette Cohen, et al.
Advances in Genomics and Genetics
|
July 28, 2018
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation
Edith Schussler, Rita V Linkner, Jacob Levitt, et al.
European Journal of Medical Genetics
|
September 24, 2013
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1
Tracy Brandt, Leah Blanchard, Khyati Desai, et al.
The Journal of Craniofacial Surgery
|
July 30, 2014
Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade
Carolyn A Brydon, Julia Conway, Rochelle Kling, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2020
Headaches in hypermobility syndromes: A pain in the neck?
Anuj Malhotra, Anna Pace, Tania Ruiz Maya, et al.
Urology
|
September 30, 2008
Ovotesticular disorder of sexual development (true hermaphroditism)
Ann-Leslie Berger-Zaslav, Lakshmi Mehta, Jessy Jacob, et al.
Prenatal Diagnosis
|
January 26, 2025
Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation
Jun Liao, Naixin Xu, Harry Gao, et al.
Molecular Genetics & Genomic Medicine
|
June 21, 2019
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
Lisong Shi, Yan Bai, Yara Kharbutli, et al.
Page
of 5