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Kate Chandler

Showing results (21-30 of 49) with videos related to

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Archives of Disease in Childhood|July 17, 2012
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesSofia Douzgou, Catherine Breen, Yanick J Crow, et al.
Clinical Genetics|October 28, 2021
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletionsThorkild Terkelsen, Charlotte Brasch-Andersen, Niels Illum, et al.
Acta Ophthalmologica|May 28, 2022
Clinical and genetic findings in TRPM1-related congenital stationary night blindnessChristos Iosifidis, Jingshu Liu, Theodora Gale, et al.
Pediatric Nephrology (Berlin, Germany)|April 14, 2018
Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term managementVijaya Sathyanarayana, Beth Lee, Neville B Wright, et al.
Clinical Genetics|July 17, 2019
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticityJustyna A Karolak, Przemyslaw Szafranski, David Kilner, et al.
BMC Medical Genetics|January 13, 2018
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPFIsabell Popp, Maqsood Punekar, Nick Telford, et al.
The British Journal of Radiology|September 16, 2015
Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imagingStavros M Stivaros, Robert Alston, Neville B Wright, et al.
European Journal of Human Genetics : EJHG|October 14, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literatureOliver Murch, Vani Jain, Andreas Benneche, et al.
Plos One|January 15, 2010
A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skippingGemma L Walmsley, Virginia Arechavala-Gomeza, Marta Fernandez-Fuente, et al.
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Archives of Disease in Childhood|July 17, 2012
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesSofia Douzgou, Catherine Breen, Yanick J Crow, et al.
Clinical Genetics|October 28, 2021
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletionsThorkild Terkelsen, Charlotte Brasch-Andersen, Niels Illum, et al.
Acta Ophthalmologica|May 28, 2022
Clinical and genetic findings in TRPM1-related congenital stationary night blindnessChristos Iosifidis, Jingshu Liu, Theodora Gale, et al.
Pediatric Nephrology (Berlin, Germany)|April 14, 2018
Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term managementVijaya Sathyanarayana, Beth Lee, Neville B Wright, et al.
Clinical Genetics|July 17, 2019
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticityJustyna A Karolak, Przemyslaw Szafranski, David Kilner, et al.
BMC Medical Genetics|January 13, 2018
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPFIsabell Popp, Maqsood Punekar, Nick Telford, et al.
The British Journal of Radiology|September 16, 2015
Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imagingStavros M Stivaros, Robert Alston, Neville B Wright, et al.
European Journal of Human Genetics : EJHG|October 14, 2021
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literatureOliver Murch, Vani Jain, Andreas Benneche, et al.
Plos One|January 15, 2010
A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skippingGemma L Walmsley, Virginia Arechavala-Gomeza, Marta Fernandez-Fuente, et al.
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
Pageof 5