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Your search keyword '"Limb Deformities, Congenital genetics"' showing total 23 results

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23 results on '"Limb Deformities, Congenital genetics"'

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1. Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

2. Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

3. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.

4. A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.

5. Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

6. Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture.

7. Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.

8. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.

9. Yunis-Varón syndrome caused by biallelic VAC14 mutations.

10. Clinical utility gene card for: Peters plus syndrome.

11. Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

12. Structural and numerical changes of chromosome X in patients with esophageal atresia.

13. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

14. De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

15. A large duplication involving the IHH locus mimics acrocallosal syndrome.

16. 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

17. Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

18. Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.

19. A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

20. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

21. A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.

22. Clinical and molecular analysis of nine families with Adams-Oliver syndrome.

23. TP63 gene mutation in ADULT syndrome.

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