Found: 16
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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
Is the Transrectal Diameter (TRD) Suitable for Assessing Faecal Loads and Monitoring Bowel Management in Children with Hirschsprung Disease—ReKiSo Study: Prospective Study.
- Published in:
- Children, 2024, v. 11, n. 8, p. 921, doi. 10.3390/children11080921
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- Publication type:
- Article
Surgical Strategies in Total Colonic Aganglionosis: Primary Pullthrough-Pathway of Care.
- Published in:
- Children, 2024, v. 11, n. 8, p. 911, doi. 10.3390/children11080911
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- Publication type:
- Article
Inheritance of the VATER/VACTERL association.
- Published in:
- Pediatric Surgery International, 2012, v. 28, n. 7, p. 681, doi. 10.1007/s00383-012-3100-z
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- Publication type:
- Article
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.
- Published in:
- 2017
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- Publication type:
- journal article
Assessing fecal load with ultrasound in children with colorectal pathology: ReKiSo study.
- Published in:
- Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05771-4
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- Publication type:
- Article
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1377, doi. 10.1038/ejhg.2013.58
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- Publication type:
- Article
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
- Published in:
- Birth Defects Research, 2017, v. 109, p. 1063, doi. 10.1002/bdr2.1042
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- Publication type:
- Article
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 13, p. 1063, doi. 10.1002/bdr2.1042
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- Publication type:
- Article
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
- Published in:
- Kidney International, 2014, v. 85, n. 6, p. 1310, doi. 10.1038/ki.2013.417
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- Publication type:
- Article
Lippenspalte: Medical Correctness.
- Published in:
- Deutsches Ärzteblatt International, 2012, v. 109, n. 13, p. 1
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- Publication type:
- Article
Bowel Management in Hirschsprung Disease—Pre-, Peri- and Postoperative Care for Primary Pull-Through.
- Published in:
- Children, 2024, v. 11, n. 5, p. 588, doi. 10.3390/children11050588
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- Publication type:
- Article
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 445, doi. 10.1002/ajmg.a.33820
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- Publication type:
- Article
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3784, doi. 10.1002/ajmg.a.62447
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- Publication type:
- Article
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3035, doi. 10.1002/ajmg.a.36153
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- Publication type:
- Article