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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

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

PDF) A Case Report of Cornelia De Lange Syndrome in Northern Iran; A  Clinical and Diagnostic Study
PDF) A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study

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

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

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

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

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 -

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

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

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

Residência Pediátrica - Síndrome de Cornélia de Lange: relato de caso
Residência Pediátrica - Síndrome de Cornélia de Lange: relato de caso

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

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

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

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

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

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

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 &

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

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

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

Síndrome de Cornelia de Lange
Síndrome de Cornelia de Lange