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Linda Goodwin

Showing results (21-30 of 27) with videos related to

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Clinical & Experimental Ophthalmology|July 26, 2014
Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patientsIvan Prokudin, Dong Li, Sijie He, et al.
American Journal of Medical Genetics. Part A|April 28, 2017
KBG syndrome: An Australian experienceNatalia Murray, Bronwyn Burgess, Robin Hay, et al.
Human Molecular Genetics|March 8, 2013
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndromeJamal Ghoumid, Loïc Drevillon, Seyedeh Maryam Alavi-Naini, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypePaulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
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Showing results (21-30 of 27) with videos related to

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Pageof 3
You have reached the last page of results.This site can display upto 27 results.
Clinical & Experimental Ophthalmology|July 26, 2014
Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patientsIvan Prokudin, Dong Li, Sijie He, et al.
American Journal of Medical Genetics. Part A|April 28, 2017
KBG syndrome: An Australian experienceNatalia Murray, Bronwyn Burgess, Robin Hay, et al.
Human Molecular Genetics|March 8, 2013
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndromeJamal Ghoumid, Loïc Drevillon, Seyedeh Maryam Alavi-Naini, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypePaulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 3