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MASA syndrome
CRASH Syndrome: Clinical Spectrum Vance Lemmon0 Guy Van Campa of Corpus Callosum Hypoplasia, Lieve Vitsa Retardation, Adducted Thumbs, Paul Couckea Patrick J
Hereditary Spastic Paraparesis: a Review of New Developments
MASA Syndrome in Twin Brothers: Case Report of Sixteen-Year Clinical Follow Up
GENETIC TESTING REQUISITION Please Ship All
Mackenzie's Mission Gene & Condition List
Psykisk Utviklingshemming Og Forsinket Utvikling
By Submitted in Partial Satisfaction of the Requirements for Degree of in in the GRADUATE DIVISION of the UNIVERSITY of CALIFORN
Gen- Symbol Genname Erkrankung(En) OMIM Gengröße
Prenatal Microarray Disorders List V19.1
Neurological Syndromes
Utviklingsavvik V02
Charles Edward Schwartz JC Self Research
Hereditary Spastic Paraplegia Precision Panel Overview
Mapping Genes for X-Linked Disorders
Neurodevelopment Next-Generation
Phenotypes and Variants in Cases Submitted for X-Linked Intellectual Disability (XLID) Gene Panel Testing
MEHMO (Mental Retardation, Epileptic Seizures, Hypogonadism and -Genitalism, Microcephaly, Obesity), a Novel Syndrome: Assignment of Disease Locus to Xp21.1–P22.13
Three Cases with L1 Syndrome and Two Novel Mutations in the L1CAM Gene
Top View
Review of X-Linked Syndromes with Arthrogryposis Or Early Contractures—Aid to Diagnosis and Pathway Identification Jesse M
Corpus Callosum Agenesis/Dysgenesis
ECS AR X-Linked Panel Versie V1 (124 Genen) Centrum Voor Medische Genetica Gent
Clinical, Genetic and Imaging Findings Identify New Causes for Corpus
Preliminary Study of L1 Syndrome Patients With
Molecular and Comparative Genetics of Mental Retardation
Preconception Genetic Carrier Screen
Mackenzie's Mission Gene & Condition List
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force
Review Article X Linked Mental Retardation
Congenital Hydrocephalus: Gómez-López-Hernández Syndrome. an Underdiagnosed Syndrome. a Clinical Case
Sequence Analysis of the Human Genome Implications for the Understanding of Nervous System Function and Disease
Genomic Inform™ Test Carrier Screening Gene List
The Morbid Anatomy of the Human Genome: Chromosomal Location of Mutations Causing Disease
Retardation Syndrome Mapping to Xp22 J Med Genet: First Published As 10.1136/Jmg.34.7.535 on 1 July 1997
Diseases Tested – Preconception Genetic Carrier Screen
Syndrome of the Month X Linked Hydrocephalus and MASA Syndrome
The University of Chicago Genetic Services Laboratories L1CAM