Sally Ann Lynch - JoVE Visualize

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American Journal of Medical Genetics. Part A|May 2, 2023

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestaltElise Pelgrims, Sally Ann Lynch, Laurens Hannes, et al.

Journal of Pediatric Urology|April 8, 2016

Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experienceDavid Coyle, Balazs Kutasy, Kathleen Han Suyin, et al.

European Journal of Human Genetics : EJHG|April 14, 2019

Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary surveyTerri Patricia McVeigh, Luke J Kelly, Elizabeth Whitmore, et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology|July 20, 2004

Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United KingdomCraig S Wilding, Caroline L Relton, Matthew J Sutton, et al.

European Journal of Human Genetics : EJHG|January 10, 2019

Towards establishing consistency in triage in a tertiary specialtyTerri Patricia McVeigh, Deirdre Donnelly, Maryam Al Shehhi, et al.

Clinical Genetics|September 17, 2021

HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani familyErina Sasaki, Ethna Phelan, Mary O'Regan, et al.

Neurogenetics|December 21, 2017

The contribution of 7q33 copy number variations for intellectual disabilityFátima Lopes, Fátima Torres, Sally Ann Lynch, et al.

BMC Medical Genetics|July 1, 2015

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorderJillian P Casey, Patricia Goggin, Jennifer McDaid, et al.

European Journal of Human Genetics : EJHG|April 5, 2007

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridiaR Alex Henderson, Kathy Williamson, Sally Cumming, et al.

Irish Journal of Medical Science|March 15, 2024

Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significanceJane Murphy, Claire W Kirk, Deborah M Lambert, et al.

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Showing results (31-40 of 114) with videos related to

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Pageof 12

American Journal of Medical Genetics. Part A|May 2, 2023

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestaltElise Pelgrims, Sally Ann Lynch, Laurens Hannes, et al.

Journal of Pediatric Urology|April 8, 2016

Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experienceDavid Coyle, Balazs Kutasy, Kathleen Han Suyin, et al.

European Journal of Human Genetics : EJHG|April 14, 2019

Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary surveyTerri Patricia McVeigh, Luke J Kelly, Elizabeth Whitmore, et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology|July 20, 2004

Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United KingdomCraig S Wilding, Caroline L Relton, Matthew J Sutton, et al.

European Journal of Human Genetics : EJHG|January 10, 2019

Towards establishing consistency in triage in a tertiary specialtyTerri Patricia McVeigh, Deirdre Donnelly, Maryam Al Shehhi, et al.

Clinical Genetics|September 17, 2021

HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani familyErina Sasaki, Ethna Phelan, Mary O'Regan, et al.

Neurogenetics|December 21, 2017

The contribution of 7q33 copy number variations for intellectual disabilityFátima Lopes, Fátima Torres, Sally Ann Lynch, et al.

BMC Medical Genetics|July 1, 2015

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorderJillian P Casey, Patricia Goggin, Jennifer McDaid, et al.

European Journal of Human Genetics : EJHG|April 5, 2007

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridiaR Alex Henderson, Kathy Williamson, Sally Cumming, et al.

Irish Journal of Medical Science|March 15, 2024

Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significanceJane Murphy, Claire W Kirk, Deborah M Lambert, et al.

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