Search research articles
Contact Us
Filters
Showing results (101-110 of 125) with videos related to
Page
of 13
Sort By:
Orphanet Journal of Rare Diseases
|
June 3, 2014
Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa
May El Hachem, Giovanna Zambruno, Eva Bourdon-Lanoy, et al.
Paediatric Drugs
|
June 4, 2019
Evaluation of Children with Psoriasis from the BiPe Cohort: Are Patients Using Biotherapies in Real Life Eligible for Phase III Clinical Studies?
Céline Phan, Alain Beauchet, Anne-Claire Burztejn, et al.
American Journal of Medical Genetics. Part A
|
February 1, 2019
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway
John Timothy Wright, Mary Fete, Holm Schneider, et al.
Journal of the American Academy of Dermatology
|
April 6, 2018
Cutis laxa associated with monoclonal gammopathy: 14 new cases and review of the literature
Marie Jachiet, Stéphanie Harel, Anne Saussine, et al.
Ebiomedicine
|
August 21, 2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up
Virginie Vignard, Mike Maillasson, Anne Bigot, et al.
International Journal of Molecular Sciences
|
August 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism
Modibo Diallo, Cécile Courdier, Elina Mercier, et al.
Science Translational Medicine
|
June 26, 2024
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by <i>NF1</i> loss in Schwann cells and skeletal stem/progenitor cells
Simon Perrin, Sanela Protic, Vincent Bretegnier, et al.
Human Molecular Genetics
|
August 20, 2004
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
Claire L Navarro, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, et al.
Human Mutation
|
December 17, 2013
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease
Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, et al.
Page
of 13
Search research articles
Search
Showing results (101-110 of 125) with videos related to
Sort By:
Page
of 13
Orphanet Journal of Rare Diseases
|
June 3, 2014
Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa
May El Hachem, Giovanna Zambruno, Eva Bourdon-Lanoy, et al.
Paediatric Drugs
|
June 4, 2019
Evaluation of Children with Psoriasis from the BiPe Cohort: Are Patients Using Biotherapies in Real Life Eligible for Phase III Clinical Studies?
Céline Phan, Alain Beauchet, Anne-Claire Burztejn, et al.
American Journal of Medical Genetics. Part A
|
February 1, 2019
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway
John Timothy Wright, Mary Fete, Holm Schneider, et al.
Journal of the American Academy of Dermatology
|
April 6, 2018
Cutis laxa associated with monoclonal gammopathy: 14 new cases and review of the literature
Marie Jachiet, Stéphanie Harel, Anne Saussine, et al.
Ebiomedicine
|
August 21, 2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up
Virginie Vignard, Mike Maillasson, Anne Bigot, et al.
International Journal of Molecular Sciences
|
August 29, 2024
Functional Characterization of Splice Variants in the Diagnosis of Albinism
Modibo Diallo, Cécile Courdier, Elina Mercier, et al.
Science Translational Medicine
|
June 26, 2024
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by <i>NF1</i> loss in Schwann cells and skeletal stem/progenitor cells
Simon Perrin, Sanela Protic, Vincent Bretegnier, et al.
Human Molecular Genetics
|
August 20, 2004
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
Claire L Navarro, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, et al.
Human Mutation
|
December 17, 2013
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease
Matilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, et al.
Page
of 13