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Tietz syndrome
Melanocytes and Their Diseases
PIGMENT CELL & MELANOMA Research
E S P C R B U L L E T
Hearing Loss in Waardenburg Syndrome: a Systematic Review
Hereditary Hearing Impairment with Cutaneous Abnormalities
Waardenburg Syndrome Type 1 11/10/01 13:15
Comprehensive Inherited Cancer Precision Panel Overview
Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
Progress in Molecular Genetics of Heritable Skin Diseases: the Paradigms of Epidermolysis Bullosa and Pseudoxanthoma Elasticum
Waardenburg Syndrome
Utviklingsavvik V02
MITF Gene Melanocyte Inducing Transcription Factor
Genomeposter2009.Pdf
Waardenburg Syndrome and Homoeopathy
Studies on Pathogenesis of Waardenburg Syndrome Type II
Hypopigmentation/Deafness) J Med Genet: First Published As 10.1136/Jmg.37.6.446 on 1 June 2000
Tietz Syndrome
Osteopetrosis Precision Panel Overview Indications
Top View
Waardenburg Syndrome Precision Panel Overview Indications
Prevalence of Rare Diseases: Bibliographic Data
Auditory Pigmentary Syndromes
MITF P. Arg217thr Variant Identified in a Han Chinese Family with Tietz
Waardenburg Syndromes
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
(A) We Will Explain How the Likelihood Ratios (LR) for Phenotypes Are Calculated Using the Example Ontology Shown Here
Orphanet Report Series 180 160 Collection 140 Rare Diseases
Four Mutations in MITF, SOX10 and PAX3 Genes Were Identified As Genetic Causes of Waardenburg Syndrome in Four Unrelated Iranian
Novel and Recurrent Non-Truncating Mutations of the MITF Basic Domain
Identification of L-Cysteinamide As a Potent Inhibitor of Tyrosinase
Melanogenesis, Its Regulatory Process, and Insights on Biomedical, Biotechnological, and Pharmacological Potentials of Melanin As Antiviral Biochemical
Transcriptional and Signaling Regulation in Neural Crest Stem Cell-Derived Melanocyte Development: Do All Roads Lead to Mitf? Ling Hou1 , William J Pavan2
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
Syndromic and Nonsyndromic Deafness Precision Panel Overview
The Pigmentary System: Physiology and Pathophysiology
Novel and Recurrent Non-Truncating Mutations of the MITF Basic Domain: Genotypic and Phenotypic Variations in Waardenburg and Tietz Syndromes
UCLA Health System
Orphanet Report Series 180 160 Collection 140 Rare Diseases
Biology of Human Melanocyte Development, Piebaldism, and Waardenburg Syndrome
Individual Genome Sequence Gene List (By Disease)
Orphanet Report Series 180 160 Collection 140 Rare Diseases
Novel and Recurrent Non-Truncating Mutations of the MITF Basic Domain: Genotypic and Phenotypic Variations in Waardenburg and Tietz Syndromes
Rong Hu Dissertation
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
A Practical Classification of Childhood Hypopigmentation Disorders
List of Rare Diseases and Synonyms
WO 2016/176690 A2 3 November 2016 (03.11.2016) P O P C T
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
MITF—The First 25 Years
Orphanet Report Series Rare Diseases Collection
Orphanet Rep Rt Series
Disease ID Disorder Name Gene Symbols OMIM ID