Found: 266
Select item for more details and to access through your institution.
SALL4 deletion and kidney and cardiac defects associated with VACTERL association.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2347, doi. 10.1007/s00467-024-06306-8
- By:
- Publication type:
- Article
Anaesthesia guideline for distal arthrogryposis type 1.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2024, v. 65, p. S133
- Publication type:
- Article
A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons.
- Published in:
- Polish Journal of Pediatrics / Pediatria Polska, 2024, v. 99, n. 1, p. 77, doi. 10.5114/polp.2023.131546
- By:
- Publication type:
- Article
Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature.
- Published in:
- Children, 2022, v. 9, n. 8, p. 1229, doi. 10.3390/children9081229
- By:
- Publication type:
- Article
The Klippel-Trénaunay Syndrome in 2022: Unravelling Its Genetic and Molecular Profile and Its Link to the Limb Overgrowth Syndromes.
- Published in:
- Vascular Health & Risk Management, 2022, v. 18, p. 201, doi. 10.2147/VHRM.S358849
- By:
- Publication type:
- Article
Ankyloglossia Superior Syndrome With Complex Craniofacial Anomalies: Case Report and Literature Review.
- Published in:
- Cleft Palate Craniofacial Journal, 2021, v. 58, n. 7, p. 906, doi. 10.1177/1055665620964028
- By:
- Publication type:
- Article
A child with enlarged extremities – A case of macrodystrophia lipomatosa.
- Published in:
- Indian Journal of Dermatology, 2020, v. 65, n. 5, p. 409, doi. 10.4103/ijd.IJD_537_18
- By:
- Publication type:
- Article
Fetal micromelia, thoracic dysplasia and polydactyly revisited: A case-based antenatal sonographic approach.
- Published in:
- Ultrasound, 2019, v. 27, n. 3, p. 196, doi. 10.1177/1742271X19847223
- By:
- Publication type:
- Article
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 4, p. 540, doi. 10.1111/cge.13495
- By:
- Publication type:
- Article
A novel method to guide classification of para swimmers with limb deficiency.
- Published in:
- Scandinavian Journal of Medicine & Science in Sports, 2018, v. 28, n. 11, p. 2397, doi. 10.1111/sms.13229
- By:
- Publication type:
- Article
VACTERL association – Ultrasound findings and autopsy correlation.
- Published in:
- Indian Journal of Radiology & Imaging, 2018, v. 28, n. 4, p. 452, doi. 10.4103/ijri.IJRI_115_18
- Publication type:
- Article
Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report.
- Published in:
- Indian Journal of Radiology & Imaging, 2018, v. 28, n. 4, p. 456, doi. 10.4103/ijri.IJRI_173_18
- Publication type:
- Article
Clinical and Demographic Features of Pediatric Patients with Limb Loss.
- Published in:
- Journal of Physical Medicine & Rehabilitation Sciences, 2018, v. 21, n. 3, p. 101, doi. 10.31609/jpmrs.2018-59767
- By:
- Publication type:
- Article
Tricho-Rhino-Phalangeal Syndrome is a Rare Presentation of Brachydactyly.
- Published in:
- Turkish Journal of Endocrinology & Metabolism, 2018, v. 22, n. Supp, p. S65, doi. 10.25179/tjem.20182202-P204
- By:
- Publication type:
- Article
INCIDENCE OF DEFORMATIONS OF THE EXTREMITIES OF SIMMENTAL COWS IN DIFFERENT TYPES OF STALLS.
- Published in:
- Biotechnology in Animal Husbandry, 2018, v. 34, n. 2, p. 189, doi. 10.2298/BAH1802189S
- By:
- Publication type:
- Article
Cytology of cerebrospinal fluid involvement in systemic anaplastic large‐cell lymphoma.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Congenital anomalies of the limbs in mythology and antiquity.
- Published in:
- 2018
- By:
- Publication type:
- journal article
CPS49-induced neurotoxicity does not cause limb patterning anomalies in developing chicken embryos.
- Published in:
- Journal of Anatomy, 2018, v. 232, n. 4, p. 568, doi. 10.1111/joa.12712
- By:
- Publication type:
- Article
Paget-Schroetter syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Antioxidant Consumption is Associated with Decreased Odds of Congenital Limb Deficiencies.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Laparoscopic ileopexy for afferent limb syndrome after ileal pouch-anal anastomosis.
- Published in:
- Asian Journal of Endoscopic Surgery, 2017, v. 10, n. 4, p. 424, doi. 10.1111/ases.12386
- By:
- Publication type:
- Article
Middle-aged individuals with thalidomide embryopathy have undergone few surgical limb procedures and demonstrate a high degree of physical independence.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186388
- By:
- Publication type:
- Article
Young children with severe congenital malformations (VACTERL) expressed mixed feelings about their condition and worries about needles and anaesthesia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Bilateral popliteal artery entrapment syndrome secondary to anomalous lateral heads of gastrocnemius.
- Published in:
- ANZ Journal of Surgery, 2017, v. 87, n. 10, p. E149, doi. 10.1111/ans.13047
- By:
- Publication type:
- Article
Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Shprintzen-Goldberg syndrome associated with first cervical vertebra defects.
- Published in:
- Pediatrics International, 2017, v. 59, n. 10, p. 1098, doi. 10.1111/ped.13354
- By:
- Publication type:
- Article
Full thickness mesh graft in a cat with degloving wound - case presentation.
- Published in:
- Practica Veterinara.ro, 2017, n. 29, p. 28
- By:
- Publication type:
- Article
EP07.09: Real-time VCI-A with a 4D electronic probe facilitates the evaluation of fetal extremities in mid-trimester sonograms.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 291, doi. 10.1002/uog.18435
- By:
- Publication type:
- Article
A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.
- Published in:
- Journal of Genetics, 2017, v. 96, n. 4, p. 647, doi. 10.1007/s12041-017-0810-y
- By:
- Publication type:
- Article
Patients with Congenital Limb Anomaly Show Short Telomere, Shutdown of Telomerase and Deregulated Expression of Various Telomere-Associated Proteins in Peripheral Blood Mononuclear Cells-A Case Series.
- Published in:
- Journal of Clinical & Diagnostic Research, 2017, v. 11, n. 8, p. 1, doi. 10.7860/JCDR/2017/26960.10516
- By:
- Publication type:
- Article
Improving the rigour of VACTERL screening for neonates with anorectal malformations.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Intensive upper- and lower-extremity training for children with bilateral cerebral palsy: a quasi-randomized trial.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A Case of Peeling Skin Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Cornelia de Lange syndrome: specific features for prenatal diagnosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Axial and appendicular body proportions for evaluation of limb and trunk asymmetry.
- Published in:
- Acta Orthopaedica, 2017, v. 88, n. 2, p. 185, doi. 10.1080/17453674.2016.1265876
- By:
- Publication type:
- Article
Isolated thoracoschisis: Case report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Advanced signal analysis for the detection of periodic limb movements from bilateral ankle actigraphy.
- Published in:
- Journal of Sleep Research, 2017, v. 26, n. 1, p. 14, doi. 10.1111/jsr.12438
- By:
- Publication type:
- Article
Computed tomography and upper gastrointestinal series findings of esophageal bronchi in infants.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Refractory status dystonicus in ataxia telangiectasia.
- Published in:
- 2017
- By:
- Publication type:
- case study
TIBIO-TARSAL ROTATION IN EMU CHICKS (DROMAINS NOVAEHOLLANDIAE).
- Published in:
- 2017
- By:
- Publication type:
- Abstract
Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.
- Published in:
- 2016
- By:
- Publication type:
- journal article
First report of limb abnormalities in Rhaebo haematiticus (Anura: Bufonidae) at La Selva Biological Station, Sarapiquí, Costa Rica.
- Published in:
- Alytes, 2016, v. 33, p. 16
- By:
- Publication type:
- Article
Modified keystone flap for extremity defects after Mohs surgery.
- Published in:
- International Journal of Dermatology, 2016, v. 55, n. 12, p. 1391, doi. 10.1111/ijd.13368
- By:
- Publication type:
- Article
Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1.
- Published in:
- Pediatrics International, 2016, v. 58, n. 12, p. 1348, doi. 10.1111/ped.13023
- By:
- Publication type:
- Article
Fetal Valproate Syndrome with Limb Defects: An Indian Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Unilateral Erythematous Lesions with Wax-like Scaling and Limb Abnormalities: A Quiz.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 7, p. 932, doi. 10.2340/00015555-2355
- By:
- Publication type:
- Article
Unilateral Erythematous Lesions with Wax-like Scaling and Limb Abnormalities: A Comment.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 7, p. 1005, doi. 10.2340/00015555-2355
- Publication type:
- Article
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the 'Renal' phenotype.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 11, p. 2025, doi. 10.1007/s00467-016-3335-3
- By:
- Publication type:
- Article
Short Stature and Macrodactyly in a 13-Year-Old Female.
- Published in:
- 2016
- By:
- Publication type:
- Case Study