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Celia Moss

Showing results (61-70 of 70) with videos related to

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Journal of the American Academy of Dermatology|April 3, 2014
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classificationJo-David Fine, Leena Bruckner-Tuderman, Robin A J Eady, et al.
The British Journal of Dermatology|April 9, 2024
Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanismNivedita Sarveswaran, Yunisa Pamela, Akhila A N Reddy, et al.
European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.
Clinical Genetics|April 16, 2020
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complicationsAlison Foster, Basile Chalot, Thalia Antoniadi, et al.
The British Journal of Dermatology|June 9, 2023
British Society for Paediatric and Adolescent Dermatology assessment and support of mental health in children and young people with skin conditions: a multidisciplinary expert consensus statement and recommendationsTess McPherson, Jane Ravenscroft, Rukshana Ali, et al.
American Journal of Human Genetics|March 10, 2005
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosisDavid P Kelsell, Elizabeth E Norgett, Harriet Unsworth, et al.
The FEBS Journal|November 27, 2015
Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndromeYveline Hamon, Monika Legowska, Patricia Fergelot, et al.
The Journal of Clinical Investigation|November 2, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
The Journal of Clinical Investigation|February 21, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Pageof 7

Showing results (61-70 of 70) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 70 results.
Journal of the American Academy of Dermatology|April 3, 2014
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classificationJo-David Fine, Leena Bruckner-Tuderman, Robin A J Eady, et al.
The British Journal of Dermatology|April 9, 2024
Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanismNivedita Sarveswaran, Yunisa Pamela, Akhila A N Reddy, et al.
European Journal of Human Genetics : EJHG|September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new familiesVani Jain, Seow Hoong Foo, Stephen Chooi, et al.
Clinical Genetics|April 16, 2020
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complicationsAlison Foster, Basile Chalot, Thalia Antoniadi, et al.
The British Journal of Dermatology|June 9, 2023
British Society for Paediatric and Adolescent Dermatology assessment and support of mental health in children and young people with skin conditions: a multidisciplinary expert consensus statement and recommendationsTess McPherson, Jane Ravenscroft, Rukshana Ali, et al.
American Journal of Human Genetics|March 10, 2005
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosisDavid P Kelsell, Elizabeth E Norgett, Harriet Unsworth, et al.
The FEBS Journal|November 27, 2015
Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndromeYveline Hamon, Monika Legowska, Patricia Fergelot, et al.
The Journal of Clinical Investigation|November 2, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
The Journal of Clinical Investigation|February 21, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Pageof 7