Works matching DE "DE Lange's syndrome"
Results: 151
Rare neurodevelopmental disorders: your guide: How families can be key in boosting learning disability nurses' understanding of rare neurodevelopmental disorders.
- Published in:
- Learning Disability Practice, 2024, v. 27, n. 1, p. 10, doi. 10.7748/ldp.27.1.10.s5
- By:
- Publication type:
- Article
Cornelia de Lange syndrome.
- Published in:
- Learning Disability Practice, 2018, v. 21, n. 2, p. 19, doi. 10.7748/ldp.21.2.19.s20
- By:
- Publication type:
- Article
Cornelia de Lange syndrome: specific features for prenatal diagnosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
OP27.06: Cornelia de Lange syndrome: new features for prenatal diagnosis.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 128, doi. 10.1002/uog.13902
- By:
- Publication type:
- Article
Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/247683
- By:
- Publication type:
- Article
Cornelia de lange syndrome and psoriasis: Report of a case.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Cornelia de Lange Sendromu ye Konjenital Umblikal Herni.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2013, v. 13, n. 1, p. 40, doi. 10.5222/j.child.2013.040
- By:
- Publication type:
- Article
Behaviour in Cornelia de Lange syndrome: a systematic review.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Autism spectrum disorder and attention-deficit-hyperactivity disorder in Down syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Looking through a glass darkly, I then seeing face to face.
- Published in:
- JAAPA: Journal of the American Academy of Physician Assistants (Haymarket Media, Inc.), 2012, v. 25, n. 4, p. 65, doi. 10.1097/01720610-201204000-00016
- By:
- Publication type:
- Article
Single-Cell Atlas of Patient-Derived Trophoblast Organoids in Ongoing Pregnancies.
- Published in:
- Organoids, 2022, v. 1, n. 2, p. 106, doi. 10.3390/organoids1020009
- By:
- Publication type:
- Article
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
- Published in:
- Human Genetics, 2017, v. 136, n. 3, p. 307, doi. 10.1007/s00439-017-1758-y
- By:
- Publication type:
- Article
A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Dental Management of Cornelia de Lange Syndrome: A Rare Case Report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Survey of anesthetic and airway management in children and adults with Cornelia de Lange syndrome: parents' perceptions and perspectives.
- Published in:
- Anaesthesia, Pain & Intensive Care, 2017, v. 21, n. 4, p. 420
- By:
- Publication type:
- Article
Anesthetic management of a patient with Cornelia De Lange syndrome.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
DISFAGIA OROFARÍNGEA EM CRIANÇAS COM SÍNDROME CORNÉLIA DE LANGE.
- Published in:
- Revista CEFAC, 2010, v. 12, n. 5, p. 803, doi. 10.1590/S1516-18462010005000111
- By:
- Publication type:
- Article
Anesthetic Management of Cornelia de Lange Syndrome: A Case Report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Differences in the Information Needs of Parents With a Child With a Genetic Syndrome: A Cross‐Syndrome Comparison.
- Published in:
- Journal of Policy & Practice in Intellectual Disabilities, 2018, v. 15, n. 2, p. 94, doi. 10.1111/jppi.12231
- By:
- Publication type:
- Article
Behavior Phenotype: A Synthesis of Research to Understand Age-Related Change in Behavior in Several Syndromes.
- Published in:
- Journal of Policy & Practice in Intellectual Disabilities, 2014, v. 11, n. 1, p. 43, doi. 10.1111/jppi.12066
- By:
- Publication type:
- Article
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
- Published in:
- Nature, 2012, v. 489, n. 7415, p. 313, doi. 10.1038/nature11316
- By:
- Publication type:
- Article
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005322
- By:
- Publication type:
- Article
Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.
- Published in:
- Genetics, 2023, v. 225, n. 2, p. 1, doi. 10.1093/genetics/iyad159
- By:
- Publication type:
- Article
Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.
- Published in:
- Genetics, 2023, v. 224, n. 4, p. 1, doi. 10.1093/genetics/iyad061
- By:
- Publication type:
- Article
Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.
- Published in:
- Genetics, 2017, v. 207, n. 1, p. 139, doi. 10.1534/genetics.117.202291
- By:
- Publication type:
- Article
Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00255
- By:
- Publication type:
- Article
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 3, p. 165, doi. 10.1038/jhg.2014.113
- By:
- Publication type:
- Article
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 9, p. 536, doi. 10.1038/jhg.2014.60
- By:
- Publication type:
- Article
A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 9, p. 479, doi. 10.1038/jhg.2014.68
- By:
- Publication type:
- Article
Cornelia de Lange syndrome -- a rarely seen disorder.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome.
- Published in:
- PLoS Biology, 2011, v. 9, n. 10, p. 1, doi. 10.1371/journal.pbio.1001181
- By:
- Publication type:
- Article
Genetic Origins of Birth Defects Revealed by New Animal Model.
- Published in:
- PLoS Biology, 2011, v. 9, n. 10, p. 1, doi. 10.1371/journal.pbio.1001180
- By:
- Publication type:
- Article
Neuroimaging features of Cornelia de Lange syndrome.
- Published in:
- Pediatric Radiology, 2015, v. 45, n. 8, p. 1198, doi. 10.1007/s00247-015-3300-5
- By:
- Publication type:
- Article
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/8742939
- By:
- Publication type:
- Article
Severe Neonatal Thrombocytopenia in a Case of Cornelia de Lange Syndrome.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Cornelia de Lange syndrome.
- Published in:
- British Journal of Dermatology, 1976, v. 95, n. 6, p. 37
- By:
- Publication type:
- Article
Assessment and treatment of stereotypy in an individual with Cornelia de Lange syndrome and deafblindness.
- Published in:
- Journal of Intellectual & Developmental Disability, 2014, v. 39, n. 4, p. 375, doi. 10.3109/13668250.2014.953464
- By:
- Publication type:
- Article
A boy with a mild case of Cornelia de Lange syndrome with above average intelligence.
- Published in:
- 1997
- By:
- Publication type:
- Case Study
Cornelia de Lange syndrome: A case series from a resource-limited country.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 334, doi. 10.4103/JPN.JPN_25_18
- By:
- Publication type:
- Article
Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 3, p. 334, doi. 10.4103/jpn.JPN_25_18
- By:
- Publication type:
- Article
Short tandem repeats in CdLS-causing genes: distribution and comparison.
- Published in:
- Journal of Genetics, 2015, v. 94, p. 104, doi. 10.1007/s12041-014-0435-3
- By:
- Publication type:
- Article
Granulomatous rosacea in Cornelia de Lange syndrome.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.
- Published in:
- Journal of Maternal-Fetal & Neonatal Medicine, 2011, v. 24, n. 7, p. 978, doi. 10.3109/14767058.2010.531312
- By:
- Publication type:
- Article
Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2015, v. 35, n. 1, p. 270, doi. 10.1159/000369694
- By:
- Publication type:
- Article
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94958-z
- By:
- Publication type:
- Article
Hipernatremik Dehidratasyon Atakları ile Gelen Cornelia De Lange Sendromu.
- Published in:
- Medical Journal of Bakirkoy, 2013, v. 9, n. 4, p. 186, doi. 10.5350/BTDMJB201309408
- By:
- Publication type:
- Article
Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 2, p. 211, doi. 10.4274/jcrpe.galenos.2022.2022-4-14
- By:
- Publication type:
- Article