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Trine Prescott

Showing results (11-20 of 38) with videos related to

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European Journal of Human Genetics : EJHG|July 10, 2014
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1bFaisal I Rezwan, Rebecca L Poole, Trine Prescott, et al.
European Journal of Medical Genetics|January 10, 2013
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of lifeTrine Prescott, Maria Redfors, Cecilie Fremstad Rustad, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddlerCecilie F Rustad, Hilde M Dahl, Naomi L Bowers, et al.
Journal of Medical Genetics|December 8, 2021
Biallelic <i>ANGPT2</i> loss-of-function causes severe early-onset non-immune hydrops fetalisMarie F Smeland, Pascal Brouillard, Trine Prescott, et al.
American Journal of Medical Genetics. Part A|June 15, 2007
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA geneKaren Helene Ørstavik, Gun Peggy S Knudsen, Hilde Nordgarden, et al.
Journal of Pediatric Hematology/Oncology|August 28, 2020
Partial Response to Sorafenib in a Child With a Myeloid/Lymphoid Neoplasm, Eosinophilia, and a ZMYM2-FLT3 FusionMonica C Munthe-Kaas, Rakel B Forthun, Atle Brendehaug, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalusIllja J Diets, Trine Prescott, Neena L Champaigne, et al.
European Journal of Human Genetics : EJHG|March 5, 2015
Syndromic X-linked intellectual disability segregating with a missense variant in RLIMElin Tønne, Rita Holdhus, Christine Stansberg, et al.
European Journal of Medical Genetics|February 7, 2012
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genesHanne Sorte, Lars Mørkrid, Olaug Rødningen, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
A monoallelic UXS1 variant associated with short-limbed short statureCecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|July 10, 2014
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1bFaisal I Rezwan, Rebecca L Poole, Trine Prescott, et al.
European Journal of Medical Genetics|January 10, 2013
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of lifeTrine Prescott, Maria Redfors, Cecilie Fremstad Rustad, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddlerCecilie F Rustad, Hilde M Dahl, Naomi L Bowers, et al.
Journal of Medical Genetics|December 8, 2021
Biallelic <i>ANGPT2</i> loss-of-function causes severe early-onset non-immune hydrops fetalisMarie F Smeland, Pascal Brouillard, Trine Prescott, et al.
American Journal of Medical Genetics. Part A|June 15, 2007
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA geneKaren Helene Ørstavik, Gun Peggy S Knudsen, Hilde Nordgarden, et al.
Journal of Pediatric Hematology/Oncology|August 28, 2020
Partial Response to Sorafenib in a Child With a Myeloid/Lymphoid Neoplasm, Eosinophilia, and a ZMYM2-FLT3 FusionMonica C Munthe-Kaas, Rakel B Forthun, Atle Brendehaug, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalusIllja J Diets, Trine Prescott, Neena L Champaigne, et al.
European Journal of Human Genetics : EJHG|March 5, 2015
Syndromic X-linked intellectual disability segregating with a missense variant in RLIMElin Tønne, Rita Holdhus, Christine Stansberg, et al.
European Journal of Medical Genetics|February 7, 2012
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genesHanne Sorte, Lars Mørkrid, Olaug Rødningen, et al.
Molecular Genetics & Genomic Medicine|June 11, 2024
A monoallelic UXS1 variant associated with short-limbed short statureCecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, et al.
Pageof 4