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81
المؤلفون: Yves Morel, V Tardy, D Schnabel, D L'Allemand, Annette Grüters, H Krude
المصدر: The Journal of Clinical Endocrinology & Metabolism. 85:4562-4567
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Pseudogene, Molecular Sequence Data, Clinical Biochemistry, Compound heterozygosity, Biochemistry, Exon, Neonatal Screening, Endocrinology, Internal medicine, Genotype, medicine, Humans, Congenital adrenal hyperplasia, Amino Acid Sequence, Allele, Alleles, Genetics, Adrenal Hyperplasia, Congenital, Base Sequence, biology, Genome, Human, Reverse Transcriptase Polymerase Chain Reaction, 17-alpha-Hydroxyprogesterone, Homozygote, Biochemistry (medical), Infant, Newborn, 21-Hydroxylase, Promoter, medicine.disease, Hormones, Pedigree, Blotting, Southern, biology.protein, Female, Steroid 21-Hydroxylase, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa6017a12b30bff7ec0e95b431fc6ddTest
https://doi.org/10.1210/jcem.85.12.7018Test -
82
المؤلفون: D. l'Allemand, E. Keller, Annette Grüters, Dirk Schnabel, Heiko Krude
المصدر: Monatsschrift Kinderheilkunde. 148:1006-1011
مصطلحات موضوعية: Gynecology, Analyse cout efficacite, medicine.medical_specialty, business.industry, Recien nacido, Medical screening, Pediatrics, Perinatology and Child Health, medicine, Surgery, business, Adrenal Cortex Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4eda45efc511d199a07dd8975bd55419Test
https://doi.org/10.1007/s001120050684Test -
83
المؤلفون: K. Kruse, R. Holl, P. Hindmarsh, Annette Grüters
المصدر: Monatsschrift Kinderheilkunde. 148:909-914
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Continuing education, medicine.disease, Occupational training, El Niño, Family medicine, Diabetes mellitus, Pediatrics, Perinatology and Child Health, Pediatric surgery, Child and adolescent psychiatry, Medicine, Surgery, business, Educational program
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::96f64f0d5f9200a1f5076c32b6ea59eaTest
https://doi.org/10.1007/s001120050671Test -
84
المؤلفون: Angela Schulz, Maria Hoeltzenbein, Katharina Pasel, Guido Filler, Torsten Schöneberg, Annette Grüters, Knut Linnemann, Kirsten Timmermann, Jarmo Jääskeläinen
المصدر: The Journal of Clinical Endocrinology & Metabolism. 85:1703-1710
مصطلحات موضوعية: medicine.medical_specialty, Mutation, Vasopressin, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biology, Nephrogenic diabetes insipidus, medicine.disease, medicine.disease_cause, Biochemistry, Oxytocin receptor, Endocrinology, Internal medicine, Arginine vasopressin receptor 2, Diabetes insipidus, medicine, Missense mutation, Vasopressin receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8035e281995e13ad4ecfa0143d554214Test
https://doi.org/10.1210/jcem.85.4.6507Test -
85
المؤلفون: Michael Obladen, Heike Biebermann, Annette Grüters, Klaus-Peter Liesenkötter, Michael Emeis
المصدر: Pediatric Research. 46:170-173
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, endocrine system diseases, Thyrotropin, medicine.disease_cause, Genetic determinism, Hypothyroidism, Internal medicine, Congenital Hypothyroidism, medicine, Humans, Endocrine system, Receptor, Mutation, business.industry, Homozygote, Thyroid, Infant, Newborn, medicine.disease, Pedigree, Congenital hypothyroidism, medicine.anatomical_structure, Endocrinology, Pediatrics, Perinatology and Child Health, Thyroid function, business, hormones, hormone substitutes, and hormone antagonists, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4df85a97e92faf312804c717e339a438Test
https://doi.org/10.1203/00006450-199908000-00007Test -
86
المؤلفون: Ursula Schulte-Overberg, Wolfgang Biewald, Birgit Köhler, Annette Grüters, Brigitte Royer-Pokora, Valérie Schumacher, Thomas Lennert, Dagmar l’Allemand
المصدر: Pediatric Research. 45:187-190
مصطلحات موضوعية: Male, Denys–Drash syndrome, Pediatrics, medicine.medical_specialty, Pathology, Genes, Wilms Tumor, WAGR syndrome, Genitalia, Male, Wilms Tumor, Cryptorchidism, medicine, Humans, Point Mutation, Pseudohermaphroditism, Child, WT1 Proteins, Hypospadias, Base Sequence, Genitourinary system, business.industry, Chromosomes, Human, Pair 11, Genetic Carrier Screening, Uterus, Chromosome Mapping, Wilms' tumor, medicine.disease, Kidney Neoplasms, DNA-Binding Proteins, Aniridia, Karyotyping, Vagina, Pediatrics, Perinatology and Child Health, Male pseudohermaphroditism, Codon, Terminator, Female, business, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0d14108e8c776801a052b81f925cd6Test
https://doi.org/10.1203/00006450-199902000-00005Test -
87
المؤلفون: Angela Schulz, Torsten Schöneberg, Annette Grüters, Gerd Krause, Heike Biebermann, Günter Schultz, Thomas Gudermann
المصدر: The FASEB Journal. 12:1461-1471
مصطلحات موضوعية: Models, Molecular, endocrine system, endocrine system diseases, G protein, SH2 domain, Biochemistry, Thyrotropin receptor, Adenylyl cyclase, chemistry.chemical_compound, GTP-Binding Proteins, Cyclic AMP, Genetics, Animals, Humans, Receptor, Molecular Biology, DNA Primers, G protein-coupled receptor, Base Sequence, Phospholipase C, Chemistry, Receptors, Thyrotropin, Transmembrane domain, COS Cells, Mutagenesis, Site-Directed, Tyrosine, Protein Binding, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86e9171093821070b28f32615784e1b0Test
https://doi.org/10.1096/fasebj.12.14.1461Test -
88
المؤلفون: Heiko Krude, Heike Biebermann, Torsten Schöneberg, Henning Dralle, Thomas Gudermann, Hans P. Krohn, Annette Grüters
المصدر: The Journal of Clinical Endocrinology & Metabolism. 83:1431-1436
مصطلحات موضوعية: Genetics, endocrine system, Mutation, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Mutant, Heterozygote advantage, Biology, medicine.disease_cause, Biochemistry, Germline, Thyrotropin receptor, Exon, Endocrinology, Germline mutation, Internal medicine, medicine, Allele, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::132883abfaced6afe8782f972d528c56Test
https://doi.org/10.1210/jcem.83.5.4776Test -
89
المؤلفون: Torsten Schöneberg, Annette Grüters, Günter Schultz, Thomas Gudermann, Heiko Krude, Heike Biebermann
المصدر: The Journal of Clinical Endocrinology & Metabolism. 82:3471-3480
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Mutation, Candidate gene, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Point mutation, Biochemistry (medical), Clinical Biochemistry, Thyroid, Biology, medicine.disease_cause, medicine.disease, Biochemistry, Thyroid dysgenesis, eye diseases, Thyrotropin receptor, Congenital hypothyroidism, Frameshift mutation, Endocrinology, medicine.anatomical_structure, Internal medicine, medicine, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3758059f368e5b86c4a922b181484146Test
https://doi.org/10.1210/jcem.82.10.4286Test -
90
المؤلفون: G. C. Korenke, Klaus Kruse, Hans-Jürgen Christen, Rolf Beetz, Folker Hanefeld, Dietz Rating, Ekkehard Wilichowski, Annette Grüters, Bernd Peter Ernst
المصدر: Pediatric Research. 41:193-200
مصطلحات موضوعية: Male, Mitochondrial DNA, Hypoparathyroidism, Population, Kearns-Sayre Syndrome, Biology, DNA, Mitochondrial, Genome, Kearns–Sayre syndrome, Diabetes Mellitus, medicine, Humans, Direct repeat, Child, Hearing Loss, education, Gene, Gene Rearrangement, Genetics, education.field_of_study, Gene rearrangement, medicine.disease, Heteroplasmy, Pediatrics, Perinatology and Child Health, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c5ac63e7bdba96a2c044731514f59efTest
https://doi.org/10.1203/00006450-199702000-00007Test