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Ruth McGowan

Showing results (21-30 of 44) with videos related to

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Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|August 5, 2021
A Nationwide Study of the Prevalence and Initial Management of Atypical Genitalia in the Newborn in ScotlandMartina E Rodie, Salma R Ali, Arundathi Jayasena, et al.
The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|September 9, 2024
Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysisMichael Abbott, Mandy Ryan, Rodolfo Hernández, et al.
European Journal of Medical Genetics|August 6, 2011
Clinical features and respiratory complications in Myhre syndromeRuth McGowan, Ramkumar Gulati, Pamela McHenry, et al.
Advances in Therapy|April 14, 2022
Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UKJulian D Gillmore, Mary M Reilly, Caroline J Coats, et al.
Journal of Community Genetics|August 20, 2021
Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in ScotlandMichael Abbott, Lynda McKenzie, Blanca Viridiana Guizar Moran, et al.
Journal of the Endocrine Society|January 11, 2024
Gonadal Function in Boys with Bilateral Undescended TestesAngela K Lucas-Herald, Khalid I Alkanhal, Emma Caney, et al.
Journal of Medical Genetics|August 17, 2021
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomesElla Field, Gabrielle Norrish, Vanessa Acquaah, et al.
Clinical Endocrinology|May 25, 2021
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)S Faisal Ahmed, John Achermann, Julie Alderson, et al.
Endocrine|February 24, 2024
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesisEdward S Tobias, Angela K Lucas-Herald, Danielle Sagar, et al.
European Journal of Medical Genetics|February 1, 2023
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patientsAsma Hamad, Charlotte A Sherlaw-Sturrock, Kate Glover, et al.
Pageof 5

Showing results (21-30 of 44) with videos related to

Sort By:
Pageof 5
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|August 5, 2021
A Nationwide Study of the Prevalence and Initial Management of Atypical Genitalia in the Newborn in ScotlandMartina E Rodie, Salma R Ali, Arundathi Jayasena, et al.
The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care|September 9, 2024
Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysisMichael Abbott, Mandy Ryan, Rodolfo Hernández, et al.
European Journal of Medical Genetics|August 6, 2011
Clinical features and respiratory complications in Myhre syndromeRuth McGowan, Ramkumar Gulati, Pamela McHenry, et al.
Advances in Therapy|April 14, 2022
Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UKJulian D Gillmore, Mary M Reilly, Caroline J Coats, et al.
Journal of Community Genetics|August 20, 2021
Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in ScotlandMichael Abbott, Lynda McKenzie, Blanca Viridiana Guizar Moran, et al.
Journal of the Endocrine Society|January 11, 2024
Gonadal Function in Boys with Bilateral Undescended TestesAngela K Lucas-Herald, Khalid I Alkanhal, Emma Caney, et al.
Journal of Medical Genetics|August 17, 2021
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomesElla Field, Gabrielle Norrish, Vanessa Acquaah, et al.
Clinical Endocrinology|May 25, 2021
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)S Faisal Ahmed, John Achermann, Julie Alderson, et al.
Endocrine|February 24, 2024
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesisEdward S Tobias, Angela K Lucas-Herald, Danielle Sagar, et al.
European Journal of Medical Genetics|February 1, 2023
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patientsAsma Hamad, Charlotte A Sherlaw-Sturrock, Kate Glover, et al.
Pageof 5