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David Mowat

Showing results (51-60 of 83) with videos related to

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Clinical Dysmorphology|June 11, 2008
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndromeBenjamin Abo-Dalo, Melanie Roes, Sonia Canún, et al.
Plos Genetics|July 21, 2016
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Megan H Brewer, Rabia Chaudhry, Jessica Qi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 15, 2018
Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experienceDarcy A Krueger, Jamie K Capal, Paolo Curatolo, et al.
Annals of Neurology|October 1, 2008
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severityRishika A Pace, Rachel A Peat, Naomi L Baker, et al.
Orphanet Journal of Rare Diseases|September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung diseaseSuzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
The Journal of Molecular Diagnostics : JMD|February 10, 2020
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsJustyna A Karolak, Qian Liu, Nina G Xie, et al.
American Journal of Human Genetics|January 28, 2014
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndromeSze Chern Lim, Katherine R Smith, David A Stroud, et al.
American Journal of Medical Genetics. Part A|November 11, 2022
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndromeAndrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, et al.
Journal of Paediatrics and Child Health|February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testingRani Sachdev, Mike Field, Gareth S Baynam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersLisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Pageof 9

Showing results (51-60 of 83) with videos related to

Sort By:
Pageof 9
Clinical Dysmorphology|June 11, 2008
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndromeBenjamin Abo-Dalo, Melanie Roes, Sonia Canún, et al.
Plos Genetics|July 21, 2016
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Megan H Brewer, Rabia Chaudhry, Jessica Qi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 15, 2018
Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experienceDarcy A Krueger, Jamie K Capal, Paolo Curatolo, et al.
Annals of Neurology|October 1, 2008
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severityRishika A Pace, Rachel A Peat, Naomi L Baker, et al.
Orphanet Journal of Rare Diseases|September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung diseaseSuzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
The Journal of Molecular Diagnostics : JMD|February 10, 2020
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsJustyna A Karolak, Qian Liu, Nina G Xie, et al.
American Journal of Human Genetics|January 28, 2014
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndromeSze Chern Lim, Katherine R Smith, David A Stroud, et al.
American Journal of Medical Genetics. Part A|November 11, 2022
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndromeAndrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, et al.
Journal of Paediatrics and Child Health|February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testingRani Sachdev, Mike Field, Gareth S Baynam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disordersLisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Pageof 9