-
1دورية أكاديمية
المؤلفون: Peter Kuehnen, Mona Mischke, Susanna Wiegand, Christine Sers, Bernhard Horsthemke, Susanne Lau, Thomas Keil, Young-Ae Lee, Annette Grueters, Heiko Krude
المصدر: PLoS Genetics, Vol 8, Iss 3, p e1002543 (2012)
العلاقة: http://europepmc.org/articles/PMC3305357?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/491cd0058c6d4ad6bbd00cb3104365a5Test
الإتاحة: https://doi.org/10.1371/journal.pgen.1002543Test
https://doaj.org/article/491cd0058c6d4ad6bbd00cb3104365a5Test -
2
المؤلفون: Lutz Schomburg, Josef Köhrle, Laura Kalveram, Annette Grüters-Kieslich, Heike Biebermann, Mariusz W. Szkudlinski, Gunnar Kleinau
المصدر: Molecular Endocrinology. 30:954-964
مصطلحات موضوعية: 0301 basic medicine, Agonist, endocrine system, medicine.drug_class, Mutant, Thyrotropin, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, Chorionic Gonadotropin, Thyrotropin receptor, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, Humans, Receptor, Molecular Biology, Glycoproteins, Genetics, Mutation, Minireviews, General Medicine, Luteinizing Hormone, medicine.disease, Congenital hypothyroidism, 030104 developmental biology, Follicle Stimulating Hormone, Signal transduction, hormones, hormone substitutes, and hormone antagonists, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a0415d665f63a2a387870eb723a370cTest
https://doi.org/10.1210/me.2016-1065Test -
3
المؤلفون: Birgit Köhler, Angela Hübner, Heiko Krude, Cigdem Cetingdag, Annette Grüters, Heike Biebermann, Maki Fukami, Inge-Lore Ruiz-Arana
المصدر: Sexual Development. 9:80-85
مصطلحات موضوعية: Genetics, Embryology, medicine.medical_specialty, Mutation, Endocrinology, Diabetes and Metabolism, Gonadal dysgenesis, Biology, medicine.disease, medicine.disease_cause, Transactivation, Endocrinology, Hypospadias, Hemizygote, Internal medicine, medicine, Missense mutation, Gene, Testosterone, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a2f74d3062849817f5b719695fd12e6bTest
https://doi.org/10.1159/000371603Test -
4
المؤلفون: Matt J. Silver, Paula Dominguez-Salas, Daniela Handke, Andrew M. Prentice, Jörg Gromoll, Sophie E. Moore, Robert A. Waterland, Branwen J. Hennig, Anke Hinney, Joachim Spranger, Johannes Hebebrand, Frank L. Heppner, Lena Walzer, Anthony J. C. Fulford, Peter Kühnen, Susanna Wiegand, Heiko Krude, Carsten Grötzinger, Annette Grüters
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pro-Opiomelanocortin, Physiology, Offspring, Medizin, Biology, Cohort Studies, 03 medical and health sciences, Missing heritability problem, Pregnancy, Genetic variation, Humans, Epigenetics, Melanocyte-Stimulating Hormones, Obesity, Allele, Molecular Biology, Alleles, Genetics, Body Weight, Genetic Variation, Cell Biology, Methylation, Sequence Analysis, DNA, Heritability, DNA Methylation, Middle Aged, Carbon, 030104 developmental biology, DNA methylation, Leukocytes, Mononuclear, CpG Islands, Female, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8993112223eb407813fb1897acb0a9e4Test
https://www.ncbi.nlm.nih.gov/pubmed/27568547Test -
5
المؤلفون: Jessica Mühlhaus, Martin Klingenspor, Harald Brumm, S. Scherag, Johannes Hebebrand, Heike Biebermann, Anke Hinney, Susanna Wiegand, Florian Bolze, Heiko Krude, Annette Grüters
المصدر: Obesity. 20:1074-1081
مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Mutant, Medizin, Medicine (miscellaneous), Biology, Endocrinology, Humans, Obesity, Receptor, Gene, Genetics, Oxadiazoles, Nutrition and Dietetics, Wild type, Stop codon, Cell biology, Melanocortin 4 receptor, Aminoglycosides, Blood-Brain Barrier, Codon, Nonsense, Codon, Terminator, Receptor, Melanocortin, Type 4, Female, Signal transduction, Energy Metabolism, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7816d403e052f25779dfc52229e0869Test
https://doi.org/10.1038/oby.2011.202Test -
6
المؤلفون: Heike Biebermann, Daniela Handke, Heiko Krude, Peter Kühnen, Annette Grüters, Burkhard Wiesner, Gunnar Kleinau, Franziska Winkler, Jenny Eichhorst, Fergus J. Cameron, Burkhard Gerling, Anke Teichmann
المصدر: The Journal of Clinical Endocrinology & Metabolism. 97:E228-E232
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Amino Acid Motifs, Clinical Biochemistry, Biology, Transfection, Biochemistry, Protein Structure, Secondary, Receptors, G-Protein-Coupled, Substrate Specificity, Thyrotropin receptor, Endocrinology, Catalytic Domain, Internal medicine, Helix (Snails), Chlorocebus aethiops, medicine, Animals, Humans, Child, Receptor, Conserved Sequence, G protein-coupled receptor, Genetics, Biochemistry (medical), Infant, Newborn, Receptors, Thyrotropin, Transmembrane domain, HEK293 Cells, Structural Homology, Protein, COS Cells, Mutation, Motif (music), Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca878b66eaaf946d0d01a888dadc5d2Test
https://doi.org/10.1210/jc.2011-2106Test -
7
المؤلفون: Heike Biebermann, Peter Heidemann, John C. Achermann, Bruno Ferraz-de-Souza, Vanessa Schröder, Lin Lin, Peter Wieacker, Birgit Köhler, Annette Grüters, Dirk Schnabel
المصدر: Human Mutation
مصطلحات موضوعية: Adult, Steroidogenic factor 1, endocrine system, medicine.medical_specialty, Adolescent, Nonsense mutation, NR5A1, Gonadal dysgenesis, Biology, Steroidogenic Factor 1, medicine.disease_cause, Frameshift mutation, Cohort Studies, Internal medicine, Adrenal Glands, Genetics, medicine, Adrenal insufficiency, Humans, Missense mutation, nuclear receptor, Child, steroidogenic factor-1, Genetics (clinical), Gonadal Dysgenesis, 46,XY, Mutation, gonadal dysgenesis, disorders of sex development (DSD), medicine.disease, SF1, Endocrinology, male pseudohermaphroditism, Child, Preschool, Female, Haploinsufficiency, Adrenal Insufficiency, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::143227e274ab3ab3c2d7ecfdb2890131Test
https://doi.org/10.1002/humu.20588Test -
8
المؤلفون: Seyed Morteza Seifati, Andreas Tzschach, Masoumeh Falah, Hans-Hilger Ropers, Payman Jamali, Hossein Najmabadi, Reza Vazifehmand, Wei Chen, Valeh Hadavi, Franz Rüschendorf, Lars Riff Jensen, Sahar Esmaeeli Nieh, Annette Grüters, Masoud Garshasbi, Andreas W. Kuss, M. Mahdi Motazacker, Steffen Lenzner, Seyedeh Sedigheh Abedini, Kimia Kahrizi, Saghar Ghasemi Firouzabadi, Farkhondeh Behjati
المصدر: Human Genetics. 121:43-48
مصطلحات موضوعية: Adult, Genetic Markers, Male, Genes, Recessive, Locus (genetics), Consanguinity, Iran, Biology, Genetic Heterogeneity, Gene mapping, Intellectual Disability, Genetics, Humans, Family, Child, Genetics (clinical), Autosome, Genetic heterogeneity, Homozygote, Disease gene identification, Human genetics, Pedigree, Genetic marker, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38dfc2682ee6996390ecd34fe049294cTest
https://doi.org/10.1007/s00439-006-0292-0Test -
9
المؤلفون: Heike Biebermann, Heiko Krude, Annette Grüters
المصدر: Annals of the New York Academy of Sciences. 994:233-239
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, History and Philosophy of Science, Melanocortin receptor, Proopiomelanocortin, Internal medicine, medicine, Animals, Humans, POMC Gene Product, ACTH receptor, Genetic Testing, Obesity, Genetics, Mutation, Polymorphism, Genetic, integumentary system, biology, General Neuroscience, digestive, oral, and skin physiology, Melanocortin 3 receptor, Melanocortin 4 receptor, Phenotype, Endocrinology, biology.protein, Melanocortin, Peptides, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c20078ddc0b4fb42c621033e81fc538Test
https://doi.org/10.1111/j.1749-6632.2003.tb03185.xTest -
10
المؤلفون: Harald Brumm, Dirk Schnabel, Dorothee Deiss, Annette Grüters, Heike Biebermann, Arne Pfeufer
المصدر: The Journal of Clinical Endocrinology & Metabolism. 87:4811-4816
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Thyrotropin, Biology, Polymorphism, Single Nucleotide, Biochemistry, Neonatal Screening, Endocrinology, Gene Frequency, Hypothyroidism, Polymorphism (computer science), Germany, Internal medicine, Central hypothyroidism, medicine, Humans, Allele, education, Alleles, Genetics, education.field_of_study, Genetic Carrier Screening, Homozygote, Biochemistry (medical), Haplotype, Infant, Newborn, Pedigree, Haplotypes, Mutation, Mutation (genetic algorithm), Microsatellite, Female, Microsatellite Repeats, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07dc8c480f33299518d1a81981fd8c6bTest
https://doi.org/10.1210/jc.2002-020297Test