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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

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC

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

Syndrome de Cornelia de Lange — Wikipédia
Syndrome de Cornelia de Lange — Wikipédia

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 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype - ScienceDirect
A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype - ScienceDirect

Overview of the phenotype and molecular findings of two patients with... | Download Scientific Diagram
Overview of the phenotype and molecular findings of two patients with... | Download Scientific Diagram

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 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

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

Síndrome de Cornelia de Lange | uDocz
Síndrome de Cornelia de Lange | uDocz

Atteinte du syndrome de Cornelia de Lange: Waiza, bébé miracle
Atteinte du syndrome de Cornelia de Lange: Waiza, bébé miracle

Cornelia de Lange Sendromu: İki Olgu - Yeni Tıp Dergisi
Cornelia de Lange Sendromu: İki Olgu - Yeni Tıp Dergisi

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

Profile and portrait views of the average face of the CdLS group with... | Download Scientific Diagram
Profile and portrait views of the average face of the CdLS group with... | Download Scientific Diagram

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

Frontiers | Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
Frontiers | Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients

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: 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

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

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

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children | Orphanet Journal of Rare Diseases | Full Text
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children | Orphanet Journal of Rare Diseases | Full Text