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Gabriela E Jones

Showing results (1-10 of 8) with videos related to

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Clinical Medicine (London, England)|December 3, 2017
An approach to familial lymphoedemaGabriela E Jones, Sahar Mansour
Prenatal Diagnosis|October 3, 2015
Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literatureGabriela E Jones, Hatem A Mousa, Helen Rowley, et al.
Ophthalmic Genetics|February 11, 2016
14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disabilityGabriela E Jones, Lisa Robertson, Paul Warman, et al.
American Journal of Medical Genetics. Part A|January 6, 2016
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndromeGabriela E Jones, Lisa Robertson, Amit Maniyar, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Renal anomalies and lymphedema distichiasis syndrome. A rare association?Gabriela E Jones, Anna K Richmond, Osric Navti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 21, 2026
From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long-Read TranscriptomicsCharles Wade, Kylie Montgomery, Gabriela E Jones, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutationsGabriela E Jones, Pia Ostergaard, Anthony T Moore, et al.
JHEP Reports : Innovation in Hepatology|July 24, 2023
Identification and characterisation of a rare <i>MTTP</i> variant underlying hereditary non-alcoholic fatty liver diseaseJane I Grove, Peggy C K Lo, Nick Shrine, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Clinical Medicine (London, England)|December 3, 2017
An approach to familial lymphoedemaGabriela E Jones, Sahar Mansour
Prenatal Diagnosis|October 3, 2015
Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literatureGabriela E Jones, Hatem A Mousa, Helen Rowley, et al.
Ophthalmic Genetics|February 11, 2016
14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disabilityGabriela E Jones, Lisa Robertson, Paul Warman, et al.
American Journal of Medical Genetics. Part A|January 6, 2016
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndromeGabriela E Jones, Lisa Robertson, Amit Maniyar, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Renal anomalies and lymphedema distichiasis syndrome. A rare association?Gabriela E Jones, Anna K Richmond, Osric Navti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 21, 2026
From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long-Read TranscriptomicsCharles Wade, Kylie Montgomery, Gabriela E Jones, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutationsGabriela E Jones, Pia Ostergaard, Anthony T Moore, et al.
JHEP Reports : Innovation in Hepatology|July 24, 2023
Identification and characterisation of a rare <i>MTTP</i> variant underlying hereditary non-alcoholic fatty liver diseaseJane I Grove, Peggy C K Lo, Nick Shrine, et al.
Pageof 1