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BMJ Open|September 20, 2022
Cohort profile: life with neurofibromatosis 1 - the Danish NF1 cohortKaroline Doser, Hanne Hove, John R Østergaard, et al.
Journal of Medical Genetics|January 26, 2021
Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort studyLine Kenborg, Cristina Boschini, Pernille E Bidstrup, et al.
Orphanet Journal of Rare Diseases|November 29, 2024
Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based studyKaroline Doser, Jens Richardt Møllegaard Jepsen, Line Kenborg, et al.
JAMA Dermatology|March 13, 2024
Prevalence and Patient Characteristics of Ectodermal Dysplasias in DenmarkLaura Krogh Herlin, Sigrun A J Schmidt, Xenia Buus Hermann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 29, 2020
Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life spanLine Kenborg, Anne Katrine Duun-Henriksen, Susanne O Dalton, et al.
American Journal of Medical Genetics. Part A|July 30, 2021
Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register-based cohort studyLine Kenborg, Elisabeth W Andersen, Anne Katrine Duun-Henriksen, et al.
European Journal of Human Genetics : EJHG|March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisRob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.
The Journal of Clinical Endocrinology and Metabolism|August 1, 2014
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patientsSéverine Marcos, Julie Sarfati, Chrystel Leroy, et al.
American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.
American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
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