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Human Mutation
|
February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features
Ada Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2011
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern
Hugo R Martinez, Mary C Niu, V Reid Sutton, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2009
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients
V Reid Sutton, Katie Plunkett, Diane X Dang, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH
Gary Fruhman, Ayman W El-Hattab, John W Belmont, et al.
Journal of the American Dental Association (1939)
|
June 29, 2020
Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study
Mohammadamin Najirad, Sreenath Arekunnath Madathil, Frank Rauch, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2020
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes
Shelley Gibson, Mahshid S Azamian, Seema R Lalani, et al.
Nature Reviews. Rheumatology
|
February 25, 2026
Metabolic masqueraders of paediatric and adult rheumatic diseases
Steven H Lang, Cher Sha, Chelsi M Rose, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 12, 2012
Ophthalmologic findings in Aicardi syndrome
Gary Fruhman, Tanya N Eble, Nikki Gambhir, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
|
December 7, 2005
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
Alberto L Rosa, Yuan-Qing Wu, Bernard Kwabi-Addo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 23, 2020
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
Joseph T Alaimo, Kevin E Glinton, Ning Liu, et al.
Page
of 19
Search research articles
Search
Showing results (31-40 of 184) with videos related to
Sort By:
Page
of 19
Human Mutation
|
February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features
Ada Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2011
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern
Hugo R Martinez, Mary C Niu, V Reid Sutton, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2009
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients
V Reid Sutton, Katie Plunkett, Diane X Dang, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH
Gary Fruhman, Ayman W El-Hattab, John W Belmont, et al.
Journal of the American Dental Association (1939)
|
June 29, 2020
Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study
Mohammadamin Najirad, Sreenath Arekunnath Madathil, Frank Rauch, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2020
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes
Shelley Gibson, Mahshid S Azamian, Seema R Lalani, et al.
Nature Reviews. Rheumatology
|
February 25, 2026
Metabolic masqueraders of paediatric and adult rheumatic diseases
Steven H Lang, Cher Sha, Chelsi M Rose, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 12, 2012
Ophthalmologic findings in Aicardi syndrome
Gary Fruhman, Tanya N Eble, Nikki Gambhir, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology
|
December 7, 2005
Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
Alberto L Rosa, Yuan-Qing Wu, Bernard Kwabi-Addo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 23, 2020
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
Joseph T Alaimo, Kevin E Glinton, Ning Liu, et al.
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of 19