141 results on '"Froster, U. G"'
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2. Die moderne Genetik — Eine Einführung
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3. Extremitätendefekte nach Chorionzottenanalyse im Kollektiv der Universitäts-Frauenklinik Lübeck
4. Hereditäre multiple Exostosen: Molekulargenetische Analyse des EXT1-Gens in einer ungewöhnlichen Familie
5. Histologic Analysis of Gonadal Tissue in Patients With Ullrich-Turner Syndrome and Derivative Y Chromosomes
6. Aktuelle Aspekte der Diagnostik der malignen Hyperthermie
7. A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis
8. Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
9. A case of Brooke–Spiegler syndrome with a new mutation in the CYLD gene
10. Molekulargenetischer Mutationsnachweis im PTPN11-Gen beim Multiple-Lentigines- (LEOPARD-)Syndrom
11. Identification of new mutations in the TBX 5 gene in patients with Holt-Oram syndrome
12. Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography
13. Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases
14. Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations
15. Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family
16. Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation
17. Limb defects and chorionic villus sampling: results from an international registry, 1992-94
18. Authors' reply: Limb defects and chronic villus sampling
19. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
20. Noonan-Syndrom
21. Evaluation of IP-RP-HPLC for Length Determination of the Trinucleotide Repeat Fragments in Huntington's Disease
22. CYSTEINE-SPARING NOTCH3 MUTATIONS: CADASIL OR CADASIL VARIANTS?
23. Hereditäre multiple Exostosen
24. Another case of autosomal dominant exstrophy of the bladder
25. First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome
26. GENETIC COUNSELING IN ASSISTED REPRODUCTION: A CASE OF CYSTIC FIBROSIS IDENTIFIED AFTER TWO SUCCESSFUL INTRACYTOPLASMIC SPERM-INJECTION PREGNANCIES
27. Genauigkeit pränataler Diagnosen bei terminierten Schwangerschaften - eine retrospektive Analyse der Ergebnisse und Einflussfaktoren1
28. Prenatal detection of a giant bilateral thoracic vascular lesion: prognostic evaluation and genetic aspects
29. Tetraploidy in a growth‐retarded fetus with a thick placenta
30. Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele: a recurrent fetal malformation pattern coming into focus
31. VACTERL with hydrocephalus and branchial arch defects: Prenatal, clinical, and autopsy findings in two brothers
32. Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
33. Extremitätendefekte nach Chorionzottenanalyse im Kollektiv der Universitäts-Frauenklinik Lübeck
34. Maternal factors, medications, and drug exposure in congenital limb reduction defects.
35. Potential Errors with Rapid Analysis Techniques: Partial Duplication 21q Resulting from a Paternal Paracentric Insertion Uncovered in Chorionic Villus Sampling by Fluorescence in situ Hybridization.
36. Neurofibromatose Typ 1 und assoziierte Krankheiten bei 27 Kindern und Jugendlichen.
37. Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene.
38. Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings.
39. Noonan-Syndrom
40. Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene.
41. GENETIC COUNSELING IN ASSISTED REPRODUCTION: A CASE OF CYSTIC FIBROSIS IDENTIFIED AFTER TWO SUCCESSFUL INTRACYTOPLASMIC SPERM-INJECTION PREGNANCIES
42. Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family.
43. A complex chromosome rearrangement involving chromosome 8, 11, and 12 analyzed by conventional cytogenetic investigations, fluorescence in situ hybridisation, and spectral karyotyping
44. Muskul�re Hypotonie, Entwicklungsretardierung, Sprachentwicklungsst�rung und geringgradige Dysmorphiezeichen: 22q13-Deletions-Syndrom (Phelan-McDermid-Syndrom) als wichtige Differenzialdiagnose.
45. CYSTEINE-SPARING NOTCH3MUTATIONS CADASIL OR CADASIL VARIANTS?
46. Prenatal ultrasound diagnosis of congenital diaphragmatic hernia - Associated malformations, chromosomal abnormalities and pregnancy outcome
47. Limb-reduction defects and chorionic villus sampling.
48. Limb defects and chorionic villus sampling: results from an international registry, 1992-94.
49. The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
50. [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis].
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