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Erythrokeratodermia
EXTENDED CARRIER SCREENING Peace of Mind for Planned Pregnancies
Erythrokeratodermia Variabilis Et Progressiva Allelic to Oculo-Dento
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Hereditary Hearing Impairment with Cutaneous Abnormalities
Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
WES Gene Package Multiple Congenital Anomalie.Xlsx
Prevalence and Incidence of Rare Diseases
The Clinical Spectrum of Congenital
Genomeposter2009.Pdf
Darier Disease Gene
Studies Supported and Ensuing Publications - 5.31.12
Genetics (Alphabetic), Associated Disease, Laboratory and Clinical Picture, Together with Special Features of Inherited Platelet Defects (Status: März 2020)
Aase–Smith Syndrome, 231 Abboud, M.R., 381 Abdallat Syndrome, 196
Prevalence of Rare Diseases: Bibliographic Data
Erythrokeratodermia Variabilis: a Report of a Tunisian Case
Supplementary Table 1: Human Genes Captured
Generalized Mendelian Disorders of Cornification
Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1
Top View
Supplementary Online Content
A Young Girl with Progressive Symmetrical Erythrokeratoderma and Short Height
Erythrokeratodermia Variabilis
Revised Nomenclature and Classification of Inherited Ichthyoses
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell–Cell Communication?
Blueprint Genetics Palmoplantar Keratoderma Panel
Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
Studies on Mendelian Disorders of Cornification
Skin Disorders Panel Versie V4 (337 Genen) Centrum Voor Medische Genetica Gent
Erythrokeratodermia Variabilis Et Progressiva
Erythrokeratoderma Variabilis in a 6 Year Old Child
The Morbid Anatomy of the Human Genome: Chromosomal Location of Mutations Causing Disease
UC Davis Dermatology Online Journal
Blueprint Genetics Ichthyosis Panel
Phs001516.V1.P1 OMIM ID
Individual Genome Sequence Gene List (By Disease)
Ichthyosis Precision Panel Overview Indications Clinical Utility
**No Patient Handout Palmoplantar Keratoderma
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
WES Gene Package Vision Disorders.Xlsx
OMIM Mendelian Gene List V2.0
Orphanet Rep Rt Series
Mendelian Disorders Among Jews