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ABCD syndrome
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
Genescreen® Γονίδια Που Αναλύονται Και Ασθένειες Που
WES Gene Package Multiple Congenital Anomalie.Xlsx
Blueprint Genetics Craniosynostosis Panel
Whole Exome Sequencing Gene Package Intellectual Disability, Version 9.1, 31-1-2020
A De Novo Novel Mutation of the EDNRB Gene in a Taiwanese Boy with Hirschsprung Disease Wen-Chau Chen, Shen-Shun Chang,1 Edgar D
Psykisk Utviklingshemming Og Forsinket Utvikling
Hearing Loss in Waardenburg Syndrome: a Systematic Review
Orphanet Report Series Rare Diseases Collection
Prenatalscreen® Standard Technical Report
Hereditary Hearing Impairment with Cutaneous Abnormalities
Craniosynostosis Precision Panel Overview Indications Clinical Utility
WO 2015/048577 A2 April 2015 (02.04.2015) W P O P C T
Cellular and Ultrastructural Characterization of the Grey-Morph Phenotype in Southern Right Whales (Eubalaena Australis)
Download CGT Exome V2.0
Carrier Screening Panel
Utviklingsavvik V02
DISEASE GENE GHI CHÚ 1 17-Beta-Hydroxysteroid Dehydrogenase Defciency, Type HSD17B3 III 2 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency HMGCL
Top View
Mutations in G Protein–Coupled Receptors: Mechanisms, Pathophysiology and Potential Therapeutic Approachess
ABCD Syndrome (Albinism-Black Lock-Cell Migration Disorder of the Neurocytes of the Gut- Sensorineural Deafness Syndrome)
Waardenburg Syndrome Precision Panel Overview Indications
Hearing and Vision Loss Next- Generation Sequencing Panel
Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel
Hirschsprung's Disease
Elenco Dei Geni Analizzati E Malattie Genetiche Investigate
There Are Many Disorders That Cause Brief, Episodic Spells of Unprovoked
List Rare Diseases.Txt
Mendeliome Panel Versie V3 (4362 Genen) Centrum Voor Medische Genetica Gent
Blueprint Genetics Waardenburg Syndrome Panel
Transcriptional and Signaling Regulation in Neural Crest Stem Cell-Derived Melanocyte Development: Do All Roads Lead to Mitf? Ling Hou1 , William J Pavan2
Skin Disorders Panel Versie V4 (337 Genen) Centrum Voor Medische Genetica Gent
Preconception Genetic Carrier Screen
Biology of Human Melanocyte Development, Piebaldism, and Waardenburg Syndrome
Skin Disorders Panel Versie V3 (335 Genen) Centrum Voor Medische Genetica Gent
Hirschsprung Disease
Pigmentary Skin Disorders, Updates in Clinical Dermatology, 282 Index
Blueprint Genetics Syndromic Hearing Loss Panel
Some of the Most Striking Polymorphisms in Human Groundwork That Proved Crucial in Identifying a Genetic- Populations Affect the Color of Our Eyes, Hair, Or Skin
OMIM Mendelian Gene List V2.0
Prenatalscreen® - List of Analysed Genes and Examined Genetic Diseases
Orphanet Report Series Rare Diseases Collection
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Recessive Gene List V2.0
Disease ID Disorder Name Gene Symbols OMIM ID