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Weaver syndrome
Tall Stature: a Difficult Diagnosis? Cristina Meazza1* , Chiara Gertosio2, Roberta Giacchero3, Sara Pagani1 and Mauro Bozzola1
Genetic Investigation of Patients with Tall Stature
Megalencephaly and Macrocephaly
Level Estimates of Maternal Smoking and Nicotine Replacement Therapy During Pregnancy
Macrocephaly Information Sheet 6-13-19
Orphanet Report Series Rare Diseases Collection
Sotos Syndrome
Soonerstart Automatic Qualifying Syndromes and Conditions
(12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub
With a Learning Disability; Guidance for General Practice
11 Selected Syndromes and Associations
Essential Genetics 5
Craniosynostosis Precision Panel Overview Indications Clinical Utility
Adults with Sotos Syndrome: Review of 21 Adults with Molecularly Confirmed NSD1 Alterations, Including a Detailed Case Report of the Oldest Person Matthew R
Syndrome of the Month
Blueprint Genetics Congenital Structural Heart Disease Panel
From Syndromes to Normal Variation: a Candidate Gene Study of Interorbital Distances
Genetic Considerations in the Prenatal Diagnosis of Overgrowth Syndromes
Top View
EUROCAT Syndrome Guide
Ocular Manifestations of Inherited Diseases Maya Eibschitz-Tsimhoni
Congenital Heart Defects Precision Panel Overview Indications
Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis
Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
Genetic Disorders Associated with Macrocephaly
7.1 Birth Defects Code List
Guidelines for Conducting Birth Defects Surveillance
Abstracts from the 53Rd European Society of Human Genetics (ESHG) Conference: E-Posters
Ccr Pediatric Oncology Series
ORPHA Number Disease Or Group of Diseases 300305 11P15.4
ICD-10 Coding Manual List of All Reportable Congenital Malformations
MANAGEMENT of ENDOCRINE DISEASE: Diagnostic And
Familial Sotos Syndrome Caused by a Novel Missense Mutation, C2175S
Ep 2188016 B1
Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel
Mutations in NSD1 Are Responsible for Sotos Syndrome, but Are Not a Frequent Finding in Other Overgrowth Phenotypes
Anesthetic Management of a Patient with Weaver Syndrome Undergoing Emergency Evacuation of Extra-Dural Hematoma: a Case R…
1. Einleitung
Spectrum of NSD1 Mutations in Sotos and Weaver Syndromes
Rare Disease Impact Report: Insights from Patients and the Medical Community
An Overgrowth Syndrome Resembling Weaver Syndrome J Med Genet: First Published As 10.1136/Jmg.35.4.323 on 1 April 1998
Uptodate CLINICAL GENETICS
Sonographic Indications for Molecular Genetic Testing
Autism and Attention Deficit Hyperactivity Disorder Precision Panel
Type 1 Established Condition List
A Girl with the Weaver Syndrome
Chapter XVII, (Q00-Q99) (Version 23 June 2008)
Soonerstart Automatic Qualifying Syndromes and Conditions
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
Cutis Laxa Precision Panel Overview Indications Clinical Utility
SOTOS SYNDROME (CEREBRAL GIGANTISM) Analysis of 8 Cases
BRAIN ANOMALIES Dev7 (1)
Established Conditions List
Orphanet Rep Rt Series
Pediatrics Instructions: to Best Navigate the List, First Download This PDF File to Your Computer
Weaver Syndrome and EZH2 Mutations