185 results on '"Neumann, Luitgard M."'
Search Results
2. Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum
3. Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome
4. Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature
5. New mutations in the ATM gene and clinical data of 25 AT patients
6. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
7. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
8. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
9. Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
10. Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl
11. Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation
12. Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)
13. Mutations in microcephalin cause aberrant regulation of chromosome condensation
14. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
15. A Novel RAB33B Mutation in Smith–McCort Dysplasia
16. Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. (Report)
17. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1 -gene
18. Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding
19. Autosomal Dominant Inheritance in a Large Family With Focal Facial Dermal Dysplasia (Brauer–Setleis Syndrome)
20. Czech Dysplasia: Report of a Large Family and Further Delineation of the Phenotype
21. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene
22. Hay-Wells syndrome in a child with mutation in the TP73L gene
23. Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia
24. Response to Kosaki et al. “Molecular Pathology of Shprintzen–Goldberg Syndrome”
25. Defective Prelamin A Processing Resulting From LMNA or ZMPSTE24 Mutations as the Cause of Restrictive Dermopathy
26. Restrictive Dermopathy Associated With Transposition of the Great Arteries and Microcolon: A Rare Neonatal Entity With New Symptoms
27. Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
28. DDX3X mutations in two girls with a phenotype overlapping Toriello–Carey syndrome
29. Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family
30. Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism
31. Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy
32. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies
33. De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation
34. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
35. Defective prelamin A processing resulting from LMNA or ZMPSTE24 mutations as the cause of restrictive dermopathy
36. Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
37. Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
38. Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
39. A NovelRAB33BMutation in Smith-McCort Dysplasia
40. Mutation c.943G>T (p.Ala315Ser) in FGFR2Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family
41. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
42. Boy with pseudohypoparathyroidism type 1a caused byGNASgene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding
43. Interstitial deletion 2p11.2-p12: Report of a patient with mental retardation and review of the literature
44. Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel–Lindau disease in childhood
45. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
46. Hay‐Wells syndrome in a child with mutation in the TP73L gene
47. Hay‐Wells‐Syndrom bei einem Kind mit Mutation auf dem Gen TP73L
48. Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene
49. P4: Ulnar-mammary syndrome with mental retardation caused by a novel 0.8 Mb deletion encompassing the TBX3 gene
50. Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis
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