Search research articles
Contact Us
Filters
Showing results (1-10 of 11) with videos related to
Page
of 2
Sort By:
Pediatrics
|
March 20, 2023
Health Supervision for Children and Adolescents With Marfan Syndrome
Brad T Tinkle, Ronald V Lacro, Leah W Burke, et al.
Plastic and Reconstructive Surgery. Global Open
|
March 8, 2021
Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons
Max L Silverstein, Leah W Burke, Donald R Laub
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
August 28, 2007
Familial unilateral ectopia lentis
John W Simon, Jeremy M Cotliar, Leah W Burke
Journal of the Association of Genetic Technologists
|
December 7, 2018
Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results
Jeffrey D Covington, Calista Campbell, Leah W Burke, et al.
American Journal of Medical Genetics. Part A
|
August 9, 2005
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities
Margaret P Adam, Raoul C M Hennekam, Laura Davis Keppen, et al.
Human Mutation
|
October 30, 2019
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia
Carmel G McCullough, Szabolcs Szelinger, Newell Belnap, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients
Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
Pediatrics
|
March 15, 2026
Clinical Practice Guideline for Diagnosis and Management of Faltering Weight
Hans B Kersten, Praveen S Goday, Ruba Abdelhadi, et al.
Personalized Medicine
|
May 31, 2018
The Undergraduate Training in Genomics (UTRIG) Initiative: early & active training for physicians in the genomic medicine era
Rebecca L Wilcox, Patricia V Adem, Ebrahim Afshinnekoo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Magdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Pediatrics
|
March 20, 2023
Health Supervision for Children and Adolescents With Marfan Syndrome
Brad T Tinkle, Ronald V Lacro, Leah W Burke, et al.
Plastic and Reconstructive Surgery. Global Open
|
March 8, 2021
Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons
Max L Silverstein, Leah W Burke, Donald R Laub
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
August 28, 2007
Familial unilateral ectopia lentis
John W Simon, Jeremy M Cotliar, Leah W Burke
Journal of the Association of Genetic Technologists
|
December 7, 2018
Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results
Jeffrey D Covington, Calista Campbell, Leah W Burke, et al.
American Journal of Medical Genetics. Part A
|
August 9, 2005
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities
Margaret P Adam, Raoul C M Hennekam, Laura Davis Keppen, et al.
Human Mutation
|
October 30, 2019
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia
Carmel G McCullough, Szabolcs Szelinger, Newell Belnap, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients
Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
Pediatrics
|
March 15, 2026
Clinical Practice Guideline for Diagnosis and Management of Faltering Weight
Hans B Kersten, Praveen S Goday, Ruba Abdelhadi, et al.
Personalized Medicine
|
May 31, 2018
The Undergraduate Training in Genomics (UTRIG) Initiative: early & active training for physicians in the genomic medicine era
Rebecca L Wilcox, Patricia V Adem, Ebrahim Afshinnekoo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Magdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Page
of 2