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A gagné Piquer Peave sd cornelia de lange du Coca Annoter parallèle

View of Survey of anesthetic and airway management in children and adults  with Cornelia de Lange syndrome: parents' perceptions and perspectives |  Anaesthesia, Pain & Intensive Care
View of Survey of anesthetic and airway management in children and adults with Cornelia de Lange syndrome: parents' perceptions and perspectives | Anaesthesia, Pain & Intensive Care

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and  congenital diaphragmatic hernia and a review of deletions of 8p23.1 to  8pter ? A further locus for Cornelia de Lange syndrome -
Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome -

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

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel  candidate genes, genotype–phenotype correlations and common mechanisms -  Kaur - 2023 - American Journal of Medical Genetics Part A - Wiley Online  Library
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms - Kaur - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

Clinical signs of Cornelia de Lange patients. (a1) Dysmorphic face of... |  Download Scientific Diagram
Clinical signs of Cornelia de Lange patients. (a1) Dysmorphic face of... | Download Scientific Diagram

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

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

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

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

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

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

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

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

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

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

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 Caused by an Intragenic  Heterozygous Deletion in RAD21 Detected through Very-High-Resolution  Chromosomal Microarray Analysis
Genes | Free Full-Text | Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis

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

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

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

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

Diagnosis and management of Cornelia de Lange syndrome: first international  consensus statement | Nature Reviews Genetics
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement | Nature Reviews Genetics

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of  clinical and genetic characteristics in a Chinese CdLS cohort - Li - 2020 -  Molecular Genetics &
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort - Li - 2020 - Molecular Genetics &

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

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

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