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Monilethrix
Abstract Book
(12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub
Pili Torti: a Feature of Numerous Congenital and Acquired Conditions
Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
Mclean-W.H.I.-2011B.Pdf
Monilethrix-Improvement-With-Acitretin.Pdf
Monilethrix.Pdf
NGS Oncology)
The Genetics of Hair Shaft Disorders
Wo 2009/046875 A2
Hague (Hag): a New Mouse Hair Mutation with an Unstable Semidominant Allele
Genetic Hair and Nail Disorders
THE BASEMENT MEMBRANE ZONE: MAKING the CONNECTION American Academy of Dermatology
A Variable Monilethrix Phenotype Associated with a Novel Mutation, Glu402lys, in the Helix Termination Motif of the Type II Hair Keratin Hhb1
Epidermolysis Bullosa Precision Panel Overview Indications Clinical
7.1 Birth Defects Code List
Mendelian Disorders Among Jews Tables
Keratin Gene Mutations in Disorders of Human Skin and Its Appendages
Top View
A Clinical Study on Genodermatoses and Their Effect On
Guidelines for Conducting Birth Defects Surveillance
Close Shave for a Keratin Disorder—K6hf Polymorphism Linked to Pseudofolliculitis Barbae
The Molecular Basis of Keratinizing Disorders
Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1
Molecular Analvsis of an Extended Palestinian Family from 1Srae1 with Monilethrix
Dermatology Boards Fodder: Genes to Know by Benjamin A
21 Genodermatoses
Newborndxtm Advanced Sequencing Evaluation Disorders List
An Autosomal Recessive Mutation of DSG4 Causes Monilethrix
Intermediate Filament Assembly: Dynamics to Disease
Identification and Characterization of Peripherin Isoforms in Amyotrophic Lateral Sclerosis
Skin Disorders Panel Versie V4 (337 Genen) Centrum Voor Medische Genetica Gent
List of Entries Essays Are Shown in Bold
A Premature Stop Codon Mutation in the 2B Helix Termination Peptide of Keratin 5 in a German Epidermolysis Bullosa Simplex Dowling–Meara Case
Attachment 1
Boards' Fodder
Individual Genome Sequence Gene List (By Disease)
Insights Into Genotype–Phenotype Correlation in Pachyonychia Congenita from the Human Intermediate Filament Mutation Database
Two Different Mutations in the Same Codon of a Type II Hair Keratin (Hhb6) in Patients with Monilethrix
An Autosomal Recessive Mutation of DSG4 Causes Monilethrix Through the ER Stress Response
WO 2016/191684 Al 1 December 2016 (01.12.2016) P O P C T
Introducing Intermediate Filaments: from Discovery to Disease
Diagnostisches Angebot.Xlsx
OMIM Mendelian Gene List V2.0
Cysts and Disorders of the Hair
Orphanet Report Series Rare Diseases Collection
Mendelian Disorders Among Jews
Case Report of a Rare Disease Tasleem Arif1,2, Imran Majid3, Mir Laieq Ishtiyaq Haji2, Nuzhat Samoon2,4
MACDP's Birth Defects and Genetic Diseases Branch 6-Digit Code
Disease ID Disorder Name Gene Symbols OMIM ID