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JAMA Dermatology, ISSN 2168-6068, 05/2016, Volume 152, Issue 5, pp. 517 - 520
Journal Article
JAMA Dermatology, ISSN 2168-6068, 05/2016, Volume 152, Issue 5, pp. 517 - 520
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 09/2018, Volume 138, Issue 9, pp. 1893 - 1900
Homozygosity mapping (HM), also known as autozygosity mapping, was originally used to map genes underlying homozygous autosomal recessive Mendelian diseases in... 
READ ALIGNMENT | MUTATION | EPIDERMOLYSIS-BULLOSA | SEQUENCING DATA | ARRAYS | BURROWS-WHEELER TRANSFORM | DERMATOLOGY | Genetic Predisposition to Disease | Skin Diseases - genetics | Pedigree | Humans | Genetic Association Studies - methods | Biomedical Research - methods | Chromosome Mapping | Whole Exome Sequencing - methods
Journal Article
Experimental Dermatology, ISSN 0906-6705, 01/2016, Volume 25, Issue 1, pp. 17 - 19
Klippel–Trenaunay syndrome (KTS), originally described as a triad of cutaneous capillary malformation, bone and soft‐tissue hypertrophy, as well as venous and... 
Klippel–Trenaunay syndrome | CLOVES syndrome | PIK3CA | related overgrowth spectrum | fibroadipose hyperplasia | PIK3CA-related overgrowth spectrum | Fibroadipose hyperplasia | Klippel-Trenaunay syndrome | EPIDERMAL-NEVI | MARMORATA TELANGIECTATICA CONGENITA | ARTERIOVENOUS-MALFORMATION | LIPOMATOUS OVERGROWTH | DERMATOLOGY | CAPILLARY MALFORMATION MCAP | NEVI CLOVE-SYNDROME | CUTIS MARMORATA | VASCULAR MALFORMATIONS | ACTIVATING MUTATIONS | Klippel-Trenaunay-Weber Syndrome - genetics | Phosphorylation | Cell Proliferation | TOR Serine-Threonine Kinases - metabolism | Klippel-Trenaunay-Weber Syndrome - classification | Humans | Hyperplasia | Klippel-Trenaunay-Weber Syndrome - diagnosis | Lipoma - genetics | Phosphatidylinositol 3-Kinases - metabolism | Mutation, Missense | Nevus - genetics | Musculoskeletal Abnormalities - diagnosis | Proto-Oncogene Proteins c-akt - metabolism | Nevus - diagnosis | Signal Transduction | Adipose Tissue - pathology | Vascular Malformations - classification | Musculoskeletal Abnormalities - classification | Phenotype | Class I Phosphatidylinositol 3-Kinases | Nevus - classification | Musculoskeletal Abnormalities - genetics | Vascular Malformations - diagnosis | Lipoma - classification | Mutation | Vascular Malformations - genetics | Lipoma - diagnosis | Angiomatosis | Index Medicus
Journal Article
AMERICAN JOURNAL OF GASTROENTEROLOGY, ISSN 0002-9270, 02/2017, Volume 112, Issue 2, pp. 396 - 398
Journal Article
Journal of Hepatology, ISSN 0168-8278, 08/2019, Volume 71, Issue 2, pp. 366 - 370
Non-alcoholic fatty liver disease (NAFLD) is a multifactorial condition and the most common liver disease worldwide, affecting more than one-third of the... 
Mendelian | NAFLD | CGI-58 | Dyslipidemia | Inheritance | ABHD5 | Non-alcoholic fatty liver disease | Familial aggregation | FIBROSIS | LIPID STORAGE DISEASE | ICHTHYOSIS | GASTROENTEROLOGY & HEPATOLOGY | Liver diseases | Next-generation sequencing | Fatty liver | Heredity | Mutation | Alcohol use
Journal Article
Experimental Dermatology, ISSN 0906-6705, 01/2016, Volume 25, Issue 1, pp. 17 - 19
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 03/2019, Volume 139, Issue 3, pp. 522 - 527
The heritable forms of epidermolysis bullosa (EB), a phenotypically heterogeneous group of skin fragility disorders, is currently associated with mutations in... 
EXTRACUTANEOUS MANIFESTATIONS | GENE | MUSCULAR-DYSTROPHY | COMPLICATIONS | MUTATIONS | KLHL24 | KIDNEY | PLEC1 | SIMPLEX | DERMATOLOGY
Journal Article
Human Mutation, ISSN 1059-7794, 10/2018, Volume 39, Issue 10, pp. 1349 - 1354
Journal Article
Matrix Biology, ISSN 0945-053X, 03/2018, Volume 66, pp. 22 - 33
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 09/2015
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 07/2019, Volume 14, Issue 1, pp. 183 - 183
BackgroundKindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by... 
MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | KINDLIN-1 | Prevalence | PROTEIN | Kindler syndrome | PHENOTYPE | EPIDERMOLYSIS-BULLOSA | Skin cancer | DELETION | SCC | Bullous disease | GENETICS & HEREDITY | SQUAMOUS-CELL CARCINOMA | FERMT1 GENE | MUTATIONS | SPECTRUM | Development and progression | Genetic aspects | Research | Epidermolysis bullosa | Risk factors | Index Medicus
Journal Article