Works matching DE "MULTIPLE human abnormalities"
Results: 610
Herlyn–Werner–Wunderlich Syndrome: Case report of a newborn presenting with interlabial cyst.
- Published in:
- Proceedings of Singapore Healthcare, 2019, v. 28, n. 2, p. 131, doi. 10.1177/2010105818797141
- By:
- Publication type:
- Article
Increased incidence of preeclampsia in pregnancies complicated by fetal malformation.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Holoprosencephaly with proboscis.
- Published in:
- 1996
- By:
- Publication type:
- journal article
The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Pediatric Crohn Disease and Multisystem Inflammatory Syndrome in Children (MIS-C) and COVID-19 Treated With Infliximab.
- Published in:
- 2020
- By:
- Publication type:
- journal article
"Twin" Biliary Trees in a Patient With Heterotaxy Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Diagnostic Criteria of Pediatric Intestinal Myopathies.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Anomalous origin of one pulmonary artery from the ascending aorta: A rare entity in congenital heart disease.
- Published in:
- Ümraniye Pediatri Dergisi, 2023, v. 3, n. 1, p. 34, doi. 10.14744/upd.2023.33043
- By:
- Publication type:
- Article
The puzzle of perlman: A rare overgrowth syndrome.
- Published in:
- Asian Journal of Pediatric Nephrology, 2023, v. 6, n. 2, p. 55, doi. 10.4103/ajpn.ajpn_7_23
- By:
- Publication type:
- Article
Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Cardiopatías congénitas en fetos humanos con defectos extra cardiacos.
- Published in:
- Revista de Ciencias Médicas de Pinar del Río, 2022, v. 26, n. 6, p. 1
- By:
- Publication type:
- Article
Value of routine ultrasound examination at 35-37 weeks' gestation in diagnosis of fetal abnormalities.
- Published in:
- 2020
- By:
- Publication type:
- journal article
New intrauterine shunt for treatment of fetal fluid accumulation: single-center experience of first 17 cases.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Fetal exome sequencing: yield and limitations in a tertiary referral center.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Progressive lesions of central nervous system in microcephalic fetuses with suspected congenital Zika virus syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Detection of 22q11.2 microduplication by cell-free DNA screening and chromosomal microarray in fetus with multiple anomalies.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Correlation between prenatal ultrasound and postmortem findings in 1029 fetuses following termination of pregnancy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Case Study. Peritoneal Dialysis Catheter Obstruction by Uterine Tubaric Fimbriae in an Adult Woman with Developmental Abnormalities.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
MULTIPLE CONGENITAL ABNORMALITIES.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Diagnósticos de enfermería presentes en un recién nacido pretérmino con múltiples comorbilidades.
- Published in:
- Investigacion en Enfermeria: Imagen y Desarrollo, 2017, v. 19, n. 1, p. 123, doi. 10.11144/Javeriana.ie19-1.depr
- By:
- Publication type:
- Article
Hybrid atrial septal defect closure in a child with positional anomaly of the heart and thoracic wall abnormalities.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Novel epidemiological data on Balkan Endemic Nephropathy in endemic foci of Federation of Bosnia and Herzegovina.
- Published in:
- Folia Medica Facultatis Medicinae Universitatis Saraeviensis, 2019, v. 54, n. 1, p. 10
- By:
- Publication type:
- Article
The application of targeted RNA sequencing for the analysis of fusion genes, gene mutations, IKZF1 intragenic deletion, and CRLF2 overexpression in acute lymphoblastic leukemia.
- Published in:
- International Journal of Laboratory Hematology, 2024, v. 46, n. 4, p. 670, doi. 10.1111/ijlh.14269
- By:
- Publication type:
- Article
Antley-Bixler syndrome associated with Arnold-Chiari malformation.
- Published in:
- 2000
- By:
- Publication type:
- journal article
A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor?
- Published in:
- 2000
- By:
- Publication type:
- Case Study
Massive infantile nephroblastomatosis: a clinical, radiological, and pathological analysis of four cases.
- Published in:
- 1977
- By:
- Publication type:
- journal article
Speech and language in bilateral perisylvian polymicrogyria: a systematic review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Corpus callosum abnormalities: neuroradiological and clinical correlations.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Grainyhead-like Transcription Factors in Craniofacial Development.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Autopsy and Postmortem Studies Are Concordant.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2017, v. 141, n. 1, p. 68, doi. 10.5858/arpa.2016-0343-OA
- By:
- Publication type:
- Article
Trauma Informed Care in the Neonatal Intensive Care Unit.
- Published in:
- Journal of Social Work in End-of-Life & Palliative Care, 2023, v. 19, n. 4, p. 326, doi. 10.1080/15524256.2023.2262155
- By:
- Publication type:
- Article
Unrecognized incomplete Shone's complex. Awareness is key in congenital heart disease.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2022, v. 80, n. 7/8, p. 859, doi. 10.33963/KP.a2022.0136
- By:
- Publication type:
- Article
Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.
- Published in:
- BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-05005-y
- By:
- Publication type:
- Article
First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.
- Published in:
- 2021
- By:
- Publication type:
- journal article
King's procedure for Aitken B/Paley 2a proximal femoral focal deficiency with 19-year follow-up - a case report.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia: analysis of 48 patients.
- Published in:
- Journal of Hand Surgery (17531934), 2022, v. 47, n. 7, p. 711, doi. 10.1177/17531934221087521
- By:
- Publication type:
- Article
Detection of malignant right coronary artery anomaly by multi-slice CT coronary angiography.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Extreme fenestration of the basilar artery associated with cleft palate, nasopharyngeal mature teratoma, and hypophyseal duplication.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Mullerian dysgenesis: a critical review of the literature.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Hypomelanosis of Ito may or may not involve hair growth.
- Published in:
- 1997
- By:
- Publication type:
- Case Study
Multiple human tracking in RGB-depth data: a survey.
- Published in:
- IET Computer Vision (Wiley-Blackwell), 2017, v. 11, n. 4, p. 265, doi. 10.1049/iet-cvi.2016.0178
- By:
- Publication type:
- Article
Diagnostic value of clinical manifestations of Group A and Group B compared with rubella serology results in congenital rubella syndrome.
- Published in:
- Paediatrica Indonesiana, 2024, v. 64, n. 2, p. 139, doi. 10.14238/pi64.2.2024.139-44
- By:
- Publication type:
- Article
Bradyphrenia and Tachyphrenia in Idiopathic Parkinsonism Appear, in Part, Iatrogenic: An Observational Study with Systematic Review Background.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 20, p. 6499, doi. 10.3390/jcm12206499
- By:
- Publication type:
- Article
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article