41 results on '"Bohring, Axel"'
Search Results
2. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
3. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
4. Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome
5. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease
6. Novel genetic findings
7. Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (optiz trigonocephaly) syndrome
8. ANKRD11 variants: KBG syndrome and beyond
9. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
10. Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome
11. The male phenotype in osteopathia striata congenita with cranial sclerosis
12. Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia
13. The face of Noonan syndrome: Does phenotype predict genotype
14. New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas
15. Aberrant Splicing Is a Common Mutational Mechanism in MKS1, a Key Player in Meckel-Gruber Syndrome
16. A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss
17. New Cases of Bohring–Opitz Syndrome, Update, and Critical Review of the Literature
18. Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1
19. Expanding the clinical spectrum of recessive truncating mutations ofKLHL7to a Bohring-Opitz-like phenotype
20. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
21. 47 patients with FLNA associated periventricular nodular heterotopia
22. 47 patients with FLNA associated periventricular nodular heterotopia
23. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain
24. Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies
25. WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
26. Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies
27. NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
28. Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
29. Hybrid Neurofibroma/Schwannoma is Overrepresented Among Schwannomatosis and Neurofibromatosis Patients
30. New Mutations ofEXT1andEXT2Genes in German Patients with Multiple Osteochondromas
31. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
32. Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome
33. OEIS complex, VATER, and the ongoing difficulties in terminology and delineation
34. Expanding the clinical spectrum of recessive truncating mutations of KLHL7to a Bohring-Opitz-like phenotype
35. Polytopic anomalies with agenesis of the lower vertebral column
36. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
37. A further case of vertical transmission of proximal femoral focal deficiency?
38. Unusual complex of ventral midline anomalies: A multiple congenital anomalies/mental retardation syndrome
39. Annular pancreas in two sisters
40. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
41. Type II Lissencephalies Associated with POMGnT1 Mutations.
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