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Acrocallosal syndrome
Megalencephaly and Macrocephaly
The Genetic Heterogeneity of Brachydactyly Type A1: Identifying the Molecular Pathways
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Abstracts Books 2014
Workshop Schedule
De Novo GLI3 Mutation in Acrocallosal Syndrome
Arthrogryposis and Congenital Myasthenic Syndrome Precision Panel
Joubert Syndrome and Related Disorders Precision Panel Overview Indications Clinical Utility
Blueprint Genetics Neuronal Migration Disorder Panel
A Large Duplication Involving the IHH Locus Mimics Acrocallosal Syndrome
Metopic and Sagittal Synostosis in Greig Cephalopolysyndactyly Syndrome: five Cases with Intragenic Mutations Or Complete Deletions of GLI3
Agenesis of the Corpus Callosum
Carrier Screening Panel
The Acrocallosal Syndrome in First Cousins: Widening of the Spectrum of Clinical Features and Further Support for Autosomal Recessive Inheritance
Congenital Hand Anomalies and Associated Syndromes Ghazi M
Failure to Identify Antenatal Multiple Congenital Contractures and Fetal Akinesia – Proposal of Guidelines to Improve Diagnosis
A Proposed Diagnostic Scheme for People with Epileptic Seizures and with Epilepsy: Report of the ILAE Task Force on Classification and Terminology
Greig Cephalopolysyndactyly Syndrome
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GENETIC TESTING REQUISITION Please Ship All NON-PRENATAL
Sevoflurane in Child with Carpus Callosum Agenesis Syndrome, a Series of Four Cases
The Acrocallosal Syndrome and Greig Syndrome Are Not Allelic Disorders 637
Autistic Symptoms in Greig Cephalopolysyndactyly Syndrome: A
(Multiple Congenital Contractures): Diagnostic Approach to Etiology, Classification, Genetics, and General Principles
GLI3 Gene GLI Family Zinc Finger 3
Acrocallosal Syndrome
Hearing and Vision Loss Next- Generation Sequencing Panel
Baraitser–Winter Cerebrofrontofacial Syndrome: Delineation of the Spectrum in 42 Cases
Mackenzie's Mission Gene & Condition List
Report from the European Conference on Rare Diseases 2005
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
Blueprint Genetics Gastrointestinal Atresia Panel
WES Gene Package Multiple Congenital Anomalie.Xlsx
List Rare Diseases.Txt
Overcoming the Limits of Rare Disease Matching Using Facial Phenotype Descriptors
Nefro Panel Versie V2 (343 Genen) Centrum Voor Medische Genetica Gent
Holoprosencephaly-Polydactyly ('Pseudotrisomy 13') Syndrome: a Syndrome with Features of Hydrolethalus and Smith-Lemli-Opitz Syndromes
Corpus Callosum Agenesis/Dysgenesis
Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel
Gli3 Mediated Polydactyly : a Review
Clinical, Genetic and Imaging Findings Identify New Causes for Corpus
Diagnosed Cases of Rare Diseases at CENTOGENE January 2012 to June 2016
Winter Syndrome Are Caused by ACTB Mutations Rather Than ACTG1 Mutations
Neuronal Migration Disorders Precision Panel Overview
Clinical Application of Array-Based Comparative Genomic Hybridization
Sonographic Indications for Molecular Genetic Testing
(IJMSIR) P Age 544 ISSN- O: 2458
Nefro Panel Versie V1 (328 Genen) Centrum Voor Medische Genetica Gent
Infertility Precision Panel Overview Indications Clinical Utility
Type 1 Established Condition List
Characterizing the Morbid Genome of Ciliopathies
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Agenesis of the Corpus Callosum: Genetic, Developmental and Functional Aspects of Connectivity
Individual Genome Sequence Gene List (By Disease)
Orphanet Report Series 180 160 Collection 140 Rare Diseases
New Insights Into Genotype-Phenotype Correlation For
Prevalence and Incidence of Rare Diseases
Rare Diseases in Numbers
Short Stature Precision Panel Overview Indications Clinical Utility
Established Conditions List
Polydactyly 26 with Syndactyly of Bilateral Great Toes
A Girl with Greig Cephalopolysyndactyly Contiguous
The Acrocallosal Syndrome
Cleft Lip and Palate Precision Panel Overview Indications Clinical
Orphanet Report Series Rare Diseases Collection
Acrocallosal Syndrome
Blueprint Genetics Holoprosencephaly Panel
Recessive Gene List V2.0
Disease ID Disorder Name Gene Symbols OMIM ID