Found: 577
Select item for more details and to access through your institution.
Keratoacanthoma arising within a linear epidermal nevus.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A case of cutaneous horn arising in verrucous epidermal nevus.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Linear atrophoderma of Moulin: A rare entity.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Dermoscopy: A rapid bedside tool to assess monilethrix.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Phakomatosis pigmentovascularis Type IIb, Sturge-Weber syndrome and cone shaped tongue: An unusual association.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Focal dermal hypoplasia (Goltz syndrome).
- Published in:
- 2005
- By:
- Publication type:
- journal article
Thyrotoxic Periodic Paralysis: A Case Report and Literature Review.
- Published in:
- Clinical Medicine & Research, 2021, v. 19, n. 3, p. 148, doi. 10.3121/cmr.2021.1610
- By:
- Publication type:
- Article
Mullerian dysgenesis: a critical review of the literature.
- Published in:
- 2017
- 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
Extracellular matrix graft for reconstruction over exposed structures: a pilot case series.
- Published in:
- Journal of Wound Care, 2020, v. 29, n. 12, p. 742, doi. 10.12968/jowc.2020.29.12.742
- By:
- Publication type:
- Article
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome.
- Published in:
- Journal of Wound Care, 2017, v. 26, n. 6, p. 342, doi. 10.12968/jowc.2017.26.6.342
- By:
- Publication type:
- Article
Longitudinal, Nationwide, Cohort Study to Assess Incidence, Outcomes, and Costs Associated With Complicated Urinary Tract Infection.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, n. 11, p. N.PAG, doi. 10.1093/ofid/ofz446
- By:
- Publication type:
- Article
1990. A Strategy of Mandatory Infectious Disease Consultations on Hospital-acquired Clostridium difficile Infection and Antimicrobial Utilization.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, p. S667, doi. 10.1093/ofid/ofz360.1670
- By:
- Publication type:
- Article
Bariatric surgery and birth defects: A systematic literature review.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome.
- Published in:
- 1998
- By:
- Publication type:
- commentary
Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Array CGH defined interstitial deletion on chromosome 14: a new case.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Spectrum of congenital heart defects in Croatia.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Ochoa syndrome: a spectrum of urofacial syndrome.
- Published in:
- 2010
- By:
- Publication type:
- journal article
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Prognosis of pentalogy of Cantrell depends mainly on the severity of the intracardiac anomalies and associated malformations.
- Published in:
- 2009
- By:
- Publication type:
- commentary
Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association.
- Published in:
- 2009
- By:
- Publication type:
- journal article
A further case of renal tubular dysgenesis surviving the neonatal period.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Oculocutaneous albinism accompanied by minor morphologic stigmata.
- Published in:
- 2008
- By:
- Publication type:
- commentary
Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery.
- Published in:
- 2008
- By:
- Publication type:
- journal article
An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.
- Published in:
- 2008
- By:
- Publication type:
- journal article
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).
- Published in:
- 2007
- By:
- Publication type:
- journal article
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
- Published in:
- 2007
- By:
- Publication type:
- journal article
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Presenting phenotype in 100 children with the 22q11 deletion syndrome.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Further delineation of El-Shanti syndrome.
- Published in:
- 2004
- By:
- Publication type:
- Case Study
The nature of naevus flammeus.
- Published in:
- 2003
- By:
- Publication type:
- commentary
Haematuria, transient proteinuria, serpiginous-border skin rash, and cardiomegaly in a 10-year-old girl. Diagnosis: Acute post-streptococcal glomerulonephritis associated with acute rheumatic pericarditis.
- Published in:
- 2003
- By:
- Publication type:
- journal article
A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Epidemiological and clinical aspects of congenital heart disease in children in Tuzla Canton, Bosnia-Herzegovina.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies.
- Published in:
- 2002
- By:
- Publication type:
- research
Normal pituitary function in a Japanese patient with Barth syndrome.
- Published in:
- 2002
- By:
- Publication type:
- Case Study