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Medicina | Free Full-Text | De novo NIPBL Mutations in Vietnamese Patients  with Cornelia de Lange Syndrome
Medicina | Free Full-Text | De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome  - Mio - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online  Library
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome - Mio - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like  phenotypes with observed and predicted levels of mosaicism | Journal of  Medical Genetics
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism | Journal of Medical Genetics

Cornelia De Lange Syndrome: Practice Essentials, Pathophysiology,  Epidemiology
Cornelia De Lange Syndrome: Practice Essentials, Pathophysiology, Epidemiology

Diagnosis and management of Cornelia de Lange Syndrome: first international  consensus statement (Adapted for easy access and wid
Diagnosis and management of Cornelia de Lange Syndrome: first international consensus statement (Adapted for easy access and wid

Clinical features of the proband and Sanger sequencing results in... |  Download Scientific Diagram
Clinical features of the proband and Sanger sequencing results in... | Download Scientific Diagram

What is Cornelia de Lange Syndrome - CdLS Foundation UK and Ireland
What is Cornelia de Lange Syndrome - CdLS Foundation UK and Ireland

Diagnostics | Free Full-Text | A Broader Perspective on the Prenatal  Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case  Presentation
Diagnostics | Free Full-Text | A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Manejo anestésico de paciente con Síndrome de Cornelia de Lange - AnestesiaR
Manejo anestésico de paciente con Síndrome de Cornelia de Lange - AnestesiaR

Genes | Free Full-Text | Cornelia de Lange Syndrome: From a Disease to a  Broader Spectrum
Genes | Free Full-Text | Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum

Cornelia de Lange syndrome: A rare case, presented with unilateral pes  equinovarus - ScienceDirect
Cornelia de Lange syndrome: A rare case, presented with unilateral pes equinovarus - ScienceDirect

Spotlight On Cornelia de Lange Syndrome - YouTube
Spotlight On Cornelia de Lange Syndrome - YouTube

Síndrome de Cornelia de Lange
Síndrome de Cornelia de Lange

Frontiers | Case report: A novel case of parental mosaicism in SMC1A gene  causes inherited Cornelia de Lange syndrome
Frontiers | Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome

Behavioural phenotype of Cornelia de Lange syndrome: case–control study |  The British Journal of Psychiatry | Cambridge Core
Behavioural phenotype of Cornelia de Lange syndrome: case–control study | The British Journal of Psychiatry | Cambridge Core

Cornelia de Lange syndrome: MedlinePlus Genetics
Cornelia de Lange syndrome: MedlinePlus Genetics

Cornelia de Lange individuals with new and recurrent SMC1A mutations  enhance delineation of mutation repertoire and phenotypic spectrum -  Gervasini - 2013 - American Journal of Medical Genetics Part A - Wiley  Online Library
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum - Gervasini - 2013 - American Journal of Medical Genetics Part A - Wiley Online Library

Cornelia de Lange syndrome: Clinical review, diagnostic and scoring  systems, and anticipatory guidance - Kline - 2007 - American Journal of  Medical Genetics Part A - Wiley Online Library
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance - Kline - 2007 - American Journal of Medical Genetics Part A - Wiley Online Library

Diagnostico prenatal en Sindrome de Cornelia de Lange a propósito de 2 casos
Diagnostico prenatal en Sindrome de Cornelia de Lange a propósito de 2 casos

Cornelia de Lange syndrome causes, symptoms, prognosis and treatment
Cornelia de Lange syndrome causes, symptoms, prognosis and treatment

Diagnostics | Free Full-Text | A Broader Perspective on the Prenatal  Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case  Presentation
Diagnostics | Free Full-Text | A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome  alter MAU2 interaction | European Journal of Human Genetics
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction | European Journal of Human Genetics

HANDICAP Archives - Tout Aide
HANDICAP Archives - Tout Aide

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and  cardiac malformation | Human Genome Variation
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation | Human Genome Variation

Two novel RAD21 mutations in patients with mild Cornelia de Lange  syndrome-like presentation and report of the first familial case -  ScienceDirect
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case - ScienceDirect

A novel RAD21 p.(Gln592del) variant expands the clinical description of  Cornelia de Lange syndrome type 4 – Review of the literature - ScienceDirect
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature - ScienceDirect