Diagnostico prenatal en Sindrome de Cornelia de Lange a propósito de 2 casos
Residência Pediátrica - Síndrome de Cornélia de Lange: relato de caso
PDF) A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case - ScienceDirect
Atteinte du syndrome de Cornelia de Lange: Waiza, bébé miracle
Diagnostico prenatal en Sindrome de Cornelia de Lange a propósito de 2 casos
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation | Human Genome Variation
Overview of the phenotype and molecular findings of two patients with... | Download Scientific Diagram
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction | European Journal of Human 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
Frontiers | Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement | Nature Reviews Genetics
Genes | Free Full-Text | Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum
Cornelia de Lange syndrome: MedlinePlus Genetics
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
Profile and portrait views of the average face of the CdLS group with... | Download Scientific Diagram
Manejo anestésico de paciente con Síndrome de Cornelia de Lange - AnestesiaR
Clinical signs of Cornelia de Lange patients. (a1) Dysmorphic face of... | Download Scientific Diagram
Behavioural phenotype of Cornelia de Lange syndrome: case–control study | The British Journal of Psychiatry | Cambridge Core
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome - Mio - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Frontiers | Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
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 -
Genes | Free Full-Text | Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum
A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype - ScienceDirect
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
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
