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Karen J Low

Showing results (1-10 of 37) with videos related to

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Clinical Dysmorphology|April 5, 2012
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleftKaren J Low, Ruth A Nwbury-Ecob
Clinical Dysmorphology|December 16, 2014
Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5Karen J Low, Chris C Buxton, Ruth A Newbury-Ecob
American Journal of Medical Genetics. Part A|October 3, 2025
The Head Circumference Height Index (HCH-I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in ChildrenMoira S Cheung, Ruggero Lanzafame, Karen J Low, et al.
Health Expectations : an International Journal of Public Participation in Health Care and Health Policy|July 3, 2025
Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic Neurodevelopmental Disorders: A Qualitative StudyKaren J Low, , Georgia Treneman-Evans, et al.
European Journal of Medical Genetics|June 15, 2018
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delayKaren J Low, J Baptista, M Babiker, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
A splice-site variant in ANKRD11 associated with classical KBG syndromeKaren J Low, Alison Hills, Maggie Williams, et al.
Developmental Medicine and Child Neurology|June 6, 2024
Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseasesPamela Bowman, Hannah Grimes, Anthony R Dallosso, et al.
Seizure|February 8, 2018
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delayKaren J Low, M James, P M Sharples, et al.
American Journal of Medical Genetics. Part A|January 16, 2026
A Growth Chart for KBG SyndromeKaren J Low, Elena Martinez-Cayuelas, Berta Almoguera, et al.
Clinical Dysmorphology|August 31, 2016
Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimesterKaren J Low, Sherif Abdel-Fattah, John Barton, et al.
Pageof 4

Showing results (1-10 of 37) with videos related to

Sort By:
Pageof 4
Clinical Dysmorphology|April 5, 2012
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleftKaren J Low, Ruth A Nwbury-Ecob
Clinical Dysmorphology|December 16, 2014
Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5Karen J Low, Chris C Buxton, Ruth A Newbury-Ecob
American Journal of Medical Genetics. Part A|October 3, 2025
The Head Circumference Height Index (HCH-I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in ChildrenMoira S Cheung, Ruggero Lanzafame, Karen J Low, et al.
Health Expectations : an International Journal of Public Participation in Health Care and Health Policy|July 3, 2025
Identifying the Impacts, Obstacles and Information Barriers for Parents of Children Living With Genetic Neurodevelopmental Disorders: A Qualitative StudyKaren J Low, , Georgia Treneman-Evans, et al.
European Journal of Medical Genetics|June 15, 2018
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delayKaren J Low, J Baptista, M Babiker, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
A splice-site variant in ANKRD11 associated with classical KBG syndromeKaren J Low, Alison Hills, Maggie Williams, et al.
Developmental Medicine and Child Neurology|June 6, 2024
Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseasesPamela Bowman, Hannah Grimes, Anthony R Dallosso, et al.
Seizure|February 8, 2018
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delayKaren J Low, M James, P M Sharples, et al.
American Journal of Medical Genetics. Part A|January 16, 2026
A Growth Chart for KBG SyndromeKaren J Low, Elena Martinez-Cayuelas, Berta Almoguera, et al.
Clinical Dysmorphology|August 31, 2016
Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimesterKaren J Low, Sherif Abdel-Fattah, John Barton, et al.
Pageof 4