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The Journal of Pediatrics
|
December 26, 2021
Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice
Guanglu Shi, Jing Xu, Shirelle F Barnes, et al.
American Journal of Medical Genetics. Part A
|
November 23, 2011
Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient
Carlos A Tirado, Garrett Gotway, Emmanuel Torgbe, et al.
Clinical Chemistry
|
July 2, 2020
Clinical Exome Studies Have Inconsistent Coverage
Garrett Gotway, Eric Crossley, Julia Kozlitina, et al.
Therapeutic Advances in Musculoskeletal Disease
|
March 28, 2022
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, et al.
American Journal of Human Genetics
|
September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Karin Weiss, Paulien A Terhal, Lior Cohen, et al.
Orphanet Journal of Rare Diseases
|
August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Yin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
Science Advances
|
December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Laura Bryant, Dong Li, Samuel G Cox, et al.
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Search research articles
Search
Showing results (11-20 of 17) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 17 results.
The Journal of Pediatrics
|
December 26, 2021
Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice
Guanglu Shi, Jing Xu, Shirelle F Barnes, et al.
American Journal of Medical Genetics. Part A
|
November 23, 2011
Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient
Carlos A Tirado, Garrett Gotway, Emmanuel Torgbe, et al.
Clinical Chemistry
|
July 2, 2020
Clinical Exome Studies Have Inconsistent Coverage
Garrett Gotway, Eric Crossley, Julia Kozlitina, et al.
Therapeutic Advances in Musculoskeletal Disease
|
March 28, 2022
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, et al.
American Journal of Human Genetics
|
September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Karin Weiss, Paulien A Terhal, Lior Cohen, et al.
Orphanet Journal of Rare Diseases
|
August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Yin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
Science Advances
|
December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Laura Bryant, Dong Li, Samuel G Cox, et al.
Page
of 2