المؤلفون: R Spiegelberg C Aulehla-scholz, Renate Spiegelberg, Christa Aulehla-scholz, Henry Erlich

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://bloodjournal.hematologylibrary.org/content/73/6/1695.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.331.8170; http://bloodjournal.hematologylibrary.org/content/73/6/1695.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.331.8170
http://bloodjournal.hematologylibrary.org/content/73/6/1695.full.pdf

المؤلفون: M. Stuhrmann-Spangenberg, J. Reiss, B. Dworniczak, C. Aulehla-Scholz

المصدر: Medizinische Genetik. 21:268-275

مصطلحات موضوعية: Gynecology, 0303 health sciences, 03 medical and health sciences, medicine.medical_specialty, business.industry, 030305 genetics & heredity, Genetics, Reproductive medicine, medicine, business, Genetics (clinical), Human genetics, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8ec718482ed6a246a4895fd346bf0802
https://doi.org/10.1007/s11825-009-0155-x

المؤلفون: S. Patton, Johannes Zschocke, C. Aulehla-Scholz

المصدر: Journal of Inherited Metabolic Disease. 31:697-702

مصطلحات موضوعية: Quality Control, Pediatrics, medicine.medical_specialty, Genotype, Quality Assurance, Health Care, DNA Mutational Analysis, Prenatal diagnosis, Phenylketonurias, External quality assessment, Genetics, Humans, Medicine, Clinical significance, Genotyping, Genetics (clinical), business.industry, Phenylalanine Hydroxylase, Reproducibility of Results, Exons, Human genetics, Molecular Diagnostic Techniques, Chemistry, Clinical, Mutation, Mutation (genetic algorithm), Mutation testing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff1ef2947e1cf1c14f97956cad824a7c
https://doi.org/10.1007/s10545-008-1052-1

المؤلفون: H. Wedemann, Jurg Ott, C. Samanns, Eberhard Schwinger, Albert Schinzel, D. David, Michael J. Denton, Andreas Gal, D.J. Terwilliger, L. I. van den Born, C. Aulehla-Scholz, M. Horn, Susanna Bunge

المصدر: Genomics. 17:230-233

مصطلحات موضوعية: Rhodopsin, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Gene mutation, Gene mapping, Genetic linkage, Retinitis pigmentosa, Genetics, medicine, Humans, Point Mutation, Genetic Testing, Genes, Dominant, Base Sequence, biology, Point mutation, Australia, medicine.disease, Europe, Genes, Genetic marker, biology.protein, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb5ebf75c7313bd81fb7cfd6574ecf2f
https://doi.org/10.1006/geno.1993.1309

المؤلفون: L. Kalaydjieva, B. Dworniczak, C. Aulehla Scholz, G. Romeo, M. Stuhrmann, J. Horst, DEVOTO, MARCELLA

المساهمون: L., Kalaydjieva, B., Dworniczak, C., Aulehla Scholz, Devoto, Marcella, G., Romeo, M., Stuhrmann, J., Horst

Relation: info:eu-repo/semantics/altIdentifier/pmid/1672963; volume:337; issue:8745; journal:THE LANCET; http://hdl.handle.net/11573/497135

الاتاحة: http://hdl.handle.net/11573/497135

المؤلفون: L. Kalaydjieva, B. Dworniczak, C. Aulehla Scholz, G. Romeo, M. Sturhmann, V. Kucinskas, V. Yurgelyavicius, J. Horst, DEVOTO, MARCELLA

المساهمون: L., Kalaydjieva, B., Dworniczak, C., Aulehla Scholz, Devoto, Marcella, G., Romeo, M., Sturhmann, V., Kucinska, V., Yurgelyaviciu, J., Horst

Relation: info:eu-repo/semantics/altIdentifier/pmid/1682495; volume:28; issue:10; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11573/497415

الاتاحة: http://hdl.handle.net/11573/497415

المؤلفون: Jürgen Horst, C Aulehla-Scholz, Manfred Stuhrmann, Luba Kalaydjieva, B Dworniczak, Giovanni Romeo, Marcella Devoto

مصطلحات موضوعية: Genetics, Base Sequence, Phenylketonurias, Molecular Sequence Data, Infant, Newborn, Biopterin, General Medicine, Biology, Infant newborn, Europe, chemistry.chemical_compound, chemistry, Mutation, Mutation (genetic algorithm), Ethnicity, Humans, Base sequence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a8c709f5010d8fc84dfafbaa8c30cd
http://hdl.handle.net/11573/497135

المؤلفون: C Aulehla-Scholz, J Horst, J Bronzova, Luba Kalaydjieva, A. Eigel, I. Kremensky, B Dworniczak

المصدر: Journal of medical genetics. 27(12)

مصطلحات موضوعية: Genetics, Mutation, Phenylalanine hydroxylase, biology, Phenylketonurias, Haplotype, DNA Mutational Analysis, medicine.disease_cause, Haplotypes, Polymorphism (computer science), biology.protein, medicine, Humans, Allele, Restriction fragment length polymorphism, Bulgaria, Gene, Genetics (clinical), Polymorphism, Restriction Fragment Length, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b5bc4b0325865e303d0b669302c9d2
https://pubmed.ncbi.nlm.nih.gov/1981599

المؤلفون: Peter Miny, Wolfgang Holzgreve, Griese Eu, C. Aulehla-Scholz, J. Horst, Oehme R

المصدر: Geburtshilfe und Frauenheilkunde. 47:533-536

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, education.field_of_study, Pregnancy, medicine.diagnostic_test, business.industry, Obstetrics, Thalassemia, Population, Obstetrics and Gynecology, Chorionic villus sampling, Prenatal diagnosis, medicine.disease, Sickle cell anemia, medicine.anatomical_structure, Obstetrics and gynaecology, hemic and lymphatic diseases, Maternity and Midwifery, medicine, Chorionic villi, business, education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8b2cd548ddd03d5489865f4986d9cd1b
https://doi.org/10.1055/s-2008-1035867

المؤلفون: C, Aulehla-Scholz, R, Spiegelberg, J, Horst

المصدر: Human genetics. 81(3)

مصطلحات موضوعية: Blotting, Southern, Heterozygote, Humans, Thalassemia, Female, Chromosome Deletion, Globins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fb9e7e0985db4ff9a6af510a41b6e119
https://pubmed.ncbi.nlm.nih.gov/2921044

المؤلفون: W, Holzgreve, C, Aulehla-Scholz, E U, Griese, R, Oehme, P, Miny, J, Horst

المصدر: Geburtshilfe und Frauenheilkunde. 47(8)

مصطلحات موضوعية: Male, Genetic Carrier Screening, Homozygote, Anemia, Sickle Cell, DNA, Pedigree, Pregnancy Trimester, First, Pregnancy, Karyotyping, Prenatal Diagnosis, Humans, Thalassemia, Female, Chorionic Villi

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2af60d187d3e404d6f37691bd5da0e23
https://pubmed.ncbi.nlm.nih.gov/3653666

المؤلفون: Luba Kalaydjieva, Giovanni Romeo, Vaidutis Kučinskas, V Yurgelyavicius, C Aulehla-Scholz, B Dworniczak, Marcella Devoto, M Sturhmann, J Horst

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Silent mutation, Heterozygote, Phenylalanine hydroxylase, Phenylketonurias, Molecular Sequence Data, medicine.disease_cause, Prenatal Diagnosis, Genetics, medicine, Humans, Genetics (clinical), Mutation, biology, Base Sequence, Genetic heterogeneity, Haplotype, Homozygote, Phenylalanine Hydroxylase, Pedigree, Restriction site, Blotting, Southern, Haplotypes, biology.protein, Restriction fragment length polymorphism, Polymorphism, Restriction Fragment Length, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::018e54201bc0adccfb32b0c950a5b303
http://www.scopus.com/inward/record.url?eid=2-s2.0-0025914318&partnerID=MN8TOARS

المؤلفون: Jörg T. Epplen, Jürgen Horst, Wolfgang Holzgreve, C. Aulehla-Scholz, Peter Miny

المصدر: Prenatal Diagnosis. 9:140-141

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Obstetrics, Obstetrics and Gynecology, Medicine, Prenatal diagnosis, Restriction fragment length polymorphism, business, β thalassaemia, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1c307f2ec7973fee4f1daa6bb1d53a3e
https://doi.org/10.1002/pd.1970090211

المؤلفون: Peter Miny, R. Spiegelberg, B Dworniczak, Wolfgang Holzgreve, C Aulehla-Scholz, Antonin Eigel, Jürgen Horst

المصدر: The Lancet. 333:326-327

مصطلحات موضوعية: Genetics, chemistry.chemical_compound, Direct sequencing, chemistry, Prenatal diagnosis, General Medicine, Biology, β thalassaemia, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::61fbab4be99a25c78c022bb4de730ade
https://doi.org/10.1016/s0140-6736(89)91334-2