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Ruth McGowan

Showing results (1-10 of 44) with videos related to

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American Journal of Medical Genetics. Part A|May 26, 2020
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndromeJenny Patterson, Caroline Coats, Ruth McGowan
Pediatric Cardiology|November 14, 2019
Novel PRKAG2 Variant Manifesting with a Cardiac Arrest in a ChildGeorgia Spentzou, Ruth McGowan, Dominic Hares, et al.
Cardiology in the Young|June 14, 2017
Prescribing an automated external defibrillator for children at increased risk of sudden arrhythmic deathKaren A McLeod, Eileen Fern, Fiona Clements, et al.
Endocrinology, Diabetes & Metabolism Case Reports|October 19, 2023
Diagnostic pitfalls in a young adult with new diabetesNatalie Below, Deborah Morrison, Ruth McGowan, et al.
Current Opinion in Pediatrics|May 22, 2018
Genetic testing of XY newborns with a suspected disorder of sex developmentMalika Alimussina, Louise Ann Diver, Ruth McGowan, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 7, 2016
Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders StudyGabriella Gazdagh, Edward S Tobias, S Faisal Ahmed, et al.
European Journal of Human Genetics : EJHG|April 16, 2024
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohortMadeline Pearson, Ruth McGowan, Philip Greene, et al.
Clinical Dysmorphology|August 25, 2010
Novel features in auriculo-condylar syndromeRuth McGowan, Victoria Murday, Esther Kinning, et al.
Plos One|December 2, 2016
Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 PregnanciesMyrthe Jacobs, Sally-Ann Cooper, Ruth McGowan, et al.
Clinical Dysmorphology|March 29, 2019
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disordersGabriella E Gazdagh, Cunyi Wang, Ruth McGowan, et al.
Pageof 5

Showing results (1-10 of 44) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|May 26, 2020
Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndromeJenny Patterson, Caroline Coats, Ruth McGowan
Pediatric Cardiology|November 14, 2019
Novel PRKAG2 Variant Manifesting with a Cardiac Arrest in a ChildGeorgia Spentzou, Ruth McGowan, Dominic Hares, et al.
Cardiology in the Young|June 14, 2017
Prescribing an automated external defibrillator for children at increased risk of sudden arrhythmic deathKaren A McLeod, Eileen Fern, Fiona Clements, et al.
Endocrinology, Diabetes & Metabolism Case Reports|October 19, 2023
Diagnostic pitfalls in a young adult with new diabetesNatalie Below, Deborah Morrison, Ruth McGowan, et al.
Current Opinion in Pediatrics|May 22, 2018
Genetic testing of XY newborns with a suspected disorder of sex developmentMalika Alimussina, Louise Ann Diver, Ruth McGowan, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 7, 2016
Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders StudyGabriella Gazdagh, Edward S Tobias, S Faisal Ahmed, et al.
European Journal of Human Genetics : EJHG|April 16, 2024
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohortMadeline Pearson, Ruth McGowan, Philip Greene, et al.
Clinical Dysmorphology|August 25, 2010
Novel features in auriculo-condylar syndromeRuth McGowan, Victoria Murday, Esther Kinning, et al.
Plos One|December 2, 2016
Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 PregnanciesMyrthe Jacobs, Sally-Ann Cooper, Ruth McGowan, et al.
Clinical Dysmorphology|March 29, 2019
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disordersGabriella E Gazdagh, Cunyi Wang, Ruth McGowan, et al.
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