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Ellen Crushell

Showing results (31-40 of 66) with videos related to

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Pediatric Research|June 9, 2015
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot studyIna Knerr, Karen Patricia Coss, Jürgen Kratzsch, et al.
Molecular Genetics and Metabolism|May 22, 2012
Identification of a mutation in LARS as a novel cause of infantile hepatopathyJillian P Casey, Paul McGettigan, Niamh Lynam-Lennon, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|January 16, 2007
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish populationMaria Dominguez, Ellen Crushell, Tanja Ilmarinen, et al.
JIMD Reports|August 5, 2015
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?Jillian P Casey, Ellen Crushell, Kyle Thompson, et al.
Journal of Nutrition and Metabolism|July 24, 2018
Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood ResultsAnne Clark, Deirdre Deverell, Emma Corcoran, et al.
European Journal of Medical Genetics|December 21, 2024
Catalogue of inherited autosomal recessive disorders found amongst the Roma population of EuropeShauna Quinn, Nicola Walsh, Ioana Streata, et al.
Journal of Proteome Research|December 24, 2013
N-glycan abnormalities in children with galactosemiaKaren P Coss, Colin P Hawkes, Barbara Adamczyk, et al.
Human Genetics|September 8, 2022
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathyDina Marek-Yagel, Emily Stenke, Ben Pode-Shakked, et al.
Journal of Inherited Metabolic Disease|April 29, 2015
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARSJillian P Casey, Suzanne Slattery, Melanie Cotter, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysisCedric Shackleton, Josep Marcos, Ewa M Malunowicz, et al.
Pageof 7

Showing results (31-40 of 66) with videos related to

Sort By:
Pageof 7
Pediatric Research|June 9, 2015
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot studyIna Knerr, Karen Patricia Coss, Jürgen Kratzsch, et al.
Molecular Genetics and Metabolism|May 22, 2012
Identification of a mutation in LARS as a novel cause of infantile hepatopathyJillian P Casey, Paul McGettigan, Niamh Lynam-Lennon, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|January 16, 2007
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish populationMaria Dominguez, Ellen Crushell, Tanja Ilmarinen, et al.
JIMD Reports|August 5, 2015
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?Jillian P Casey, Ellen Crushell, Kyle Thompson, et al.
Journal of Nutrition and Metabolism|July 24, 2018
Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood ResultsAnne Clark, Deirdre Deverell, Emma Corcoran, et al.
European Journal of Medical Genetics|December 21, 2024
Catalogue of inherited autosomal recessive disorders found amongst the Roma population of EuropeShauna Quinn, Nicola Walsh, Ioana Streata, et al.
Journal of Proteome Research|December 24, 2013
N-glycan abnormalities in children with galactosemiaKaren P Coss, Colin P Hawkes, Barbara Adamczyk, et al.
Human Genetics|September 8, 2022
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathyDina Marek-Yagel, Emily Stenke, Ben Pode-Shakked, et al.
Journal of Inherited Metabolic Disease|April 29, 2015
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARSJillian P Casey, Suzanne Slattery, Melanie Cotter, et al.
American Journal of Medical Genetics. Part A|June 25, 2004
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysisCedric Shackleton, Josep Marcos, Ewa M Malunowicz, et al.
Pageof 7