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American Journal of Medical Genetics. Part A
|
September 5, 2020
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form
Brian J Shayota, Chaofan Zhang, Roman J Shypailo, et al.
Molecular Genetics and Metabolism
|
August 1, 2012
High prevalence of overweight and obesity in females with phenylketonuria
Lindsay C Burrage, Judy McConnell, Rebecca Haesler, et al.
Clinical Genetics
|
December 18, 2019
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features
Christian Beetz, Najim Ameziane, Ameni Kdissa, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2020
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome
David D Schwartz, Rachel H Fein, Claudia M B Carvalho, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2005
Facial and physical features of Aicardi syndrome: infants to teenagers
V Reid Sutton, Bobbi J Hopkins, Tanya N Eble, et al.
Prenatal Diagnosis
|
February 22, 2002
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements
Kathryn D McGowan, Joseph J Weiser, Juli Horwitz, et al.
ASAIO Journal (American Society for Artificial Internal Organs : 1992)
|
June 20, 2012
Extracorporeal membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemia
Ryan J Stark, Bindi J Naik-Mathuria, Fong W Lam, et al.
European Journal of Medical Genetics
|
April 29, 2014
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
Carlos E Prada, Claudia Gonzaga-Jauregui, Rebecca Tannenbaum, et al.
Pediatric Endocrinology Reviews : PER
|
October 28, 2014
State of the art review in hypospadias: challenges in diagnosis and medical management
Min-Jye Chen, Lefkothea P Karaviti, Charles G Macias, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 20, 2023
Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta
Winnie Liu, Brendan Lee, Sandesh C S Nagamani, et al.
Page
of 19
Search research articles
Search
Showing results (41-50 of 184) with videos related to
Sort By:
Page
of 19
American Journal of Medical Genetics. Part A
|
September 5, 2020
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form
Brian J Shayota, Chaofan Zhang, Roman J Shypailo, et al.
Molecular Genetics and Metabolism
|
August 1, 2012
High prevalence of overweight and obesity in females with phenylketonuria
Lindsay C Burrage, Judy McConnell, Rebecca Haesler, et al.
Clinical Genetics
|
December 18, 2019
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features
Christian Beetz, Najim Ameziane, Ameni Kdissa, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2020
Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome
David D Schwartz, Rachel H Fein, Claudia M B Carvalho, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2005
Facial and physical features of Aicardi syndrome: infants to teenagers
V Reid Sutton, Bobbi J Hopkins, Tanya N Eble, et al.
Prenatal Diagnosis
|
February 22, 2002
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements
Kathryn D McGowan, Joseph J Weiser, Juli Horwitz, et al.
ASAIO Journal (American Society for Artificial Internal Organs : 1992)
|
June 20, 2012
Extracorporeal membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemia
Ryan J Stark, Bindi J Naik-Mathuria, Fong W Lam, et al.
European Journal of Medical Genetics
|
April 29, 2014
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
Carlos E Prada, Claudia Gonzaga-Jauregui, Rebecca Tannenbaum, et al.
Pediatric Endocrinology Reviews : PER
|
October 28, 2014
State of the art review in hypospadias: challenges in diagnosis and medical management
Min-Jye Chen, Lefkothea P Karaviti, Charles G Macias, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 20, 2023
Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta
Winnie Liu, Brendan Lee, Sandesh C S Nagamani, et al.
Page
of 19