المؤلفون: Madhulika Kabra, Ishrat Siddiqui, Ravneet Kaur, Neerja Gupta, Vijay Prakash Mathur, Manisha Jana

المصدر: American Journal of Medical Genetics Part A. 182:1944-1946

مصطلحات موضوعية: 0301 basic medicine, Genetics, DASS, 030105 genetics & heredity, Biology, medicine.disease, Short stature, Phenotype, Brachyolmia, 03 medical and health sciences, 030104 developmental biology, Dysplasia, medicine, Amelogenesis imperfecta, medicine.symptom, Gene, Genetics (clinical), Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0f8f7b776919739b86b55b9e22c17765Test
https://doi.org/10.1002/ajmg.a.61629Test

المؤلفون: Satoshi Narumi, Eri Suzuki, Hiroyuki Shinohara, Yukihiro Hasegawa, Masaki Takagi, Mika Shimizu, Gen Nishimura, Tomonobu Hasegawa

المصدر: American Journal of Medical Genetics Part A. 170:795-798

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, DNA Mutational Analysis, Biology, Osteochondrodysplasias, Bone and Bones, 03 medical and health sciences, Genetics, Humans, Exome, Allele, Codon, Collagen Type II, Gene, Alleles, Genetics (clinical), Exome sequencing, Genes, Dominant, Epiphyseal dysplasia, High-Throughput Nucleotide Sequencing, Autosomal dominant brachyolmia, 030104 developmental biology, Amino Acid Substitution, Mutation, Mutation (genetic algorithm)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d00effb72e5b10b549be27b072b3cd7Test
https://doi.org/10.1002/ajmg.a.37481Test

المؤلفون: Yuqing Chen, Daniel H. Cohn, Michael M. Weinstein, Stuart W. Tompson, Brendan Lee

المصدر: Journal of Bone and Mineral Research. 29:1815-1822

مصطلحات موضوعية: Genetically modified mouse, TRPV4, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Transgene, Mutant, Autosomal dominant brachyolmia, Biology, medicine.disease, Phenotype, Downregulation and upregulation, Dysplasia, medicine, Cancer research, Orthopedics and Sports Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::682cca994d0af510b1db5f8a77c6274cTest
https://doi.org/10.1002/jbmr.2220Test

المؤلفون: Joe J. Hoo, Michael Oliphant

المصدر: American Journal of Medical Genetics. :80-84

مصطلحات موضوعية: Male, Adolescent, Birth weight, Short stature, Bone and Bones, Brachyolmia, Inheritance Mode, Humans, Medicine, Platyspondyly, Child, Genetics (clinical), Bone Diseases, Developmental, business.industry, Siblings, Puberty, Anatomy, medicine.disease, Osteochondrodysplasia, Short trunk, Short femoral neck, Radiography, Female, medicine.symptom, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f469d2c1865c2ea75698898cad5c41fTest
https://doi.org/10.1002/ajmg.a.10875Test

المؤلفون: ELÇİOĞLU, HURİYE NURSEL

المساهمون: Iida, Aritoshi, Simsek-Kiper, Pelin Ozlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hulya, Utine, Gulen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro

مصطلحات موضوعية: brachyolmia, PAPSS2, phenotype, androgen excess, 3-PHOSPHOADENOSINE 5-PHOSPHOSULFATE SYNTHESIS, BRACHYMORPHIC MICE, DEFECT, DYSPLASIA, EXPRESSION, SYNTHASE

العلاقة: HUMAN MUTATION; https://hdl.handle.net/11424/237538Test; WOS:000324752700011

الإتاحة: https://doi.org/10.1002/humu.22377Test
https://hdl.handle.net/11424/237538Test

المؤلفون: Iida, Aritoshi, Simsek-Kiper, Pelin Ozlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hulya, Utine, Gulen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro

مصطلحات موضوعية: brachyolmia, PAPSS2, phenotype, androgen excess

وصف الملف: application/pdf

العلاقة: HUMAN MUTATION; https://hdl.handle.net/11443/2721Test; http://dx.doi.org/10.1002/humu.22377Test; WOS:000324752700011

الإتاحة: https://doi.org/10.1002/humu.22377Test
https://hdl.handle.net/11443/2721Test

المؤلفون: RA Stein

المصدر: Clinical Genetics. 75:118-119

مصطلحات موضوعية: TRPV4, Genetics, Cilium, Cell volume, Autosomal dominant brachyolmia, Biology, Genetics (clinical), Brachyolmia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dacb75efe2b612df0b031accf3e20b48Test
https://doi.org/10.1111/j.1399-0004.2008.01140_1.xTest

المؤلفون: Sergio P. A. Toledo

المصدر: Clinical Genetics. 42:213-214

مصطلحات موضوعية: Male, Bone Diseases, Developmental, Pathology, medicine.medical_specialty, business.industry, Chondroitin Sulfates, Osteochondrodysplasias, medicine.disease, Brachyolmia, Glycosaminoglycan, Corneal Opacity, Dysplasia, Immunology, Genetics, medicine, Humans, Female, business, Genetics (clinical), Glycosaminoglycans

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc1eadd16955d161275da2f75410ee2Test
https://doi.org/10.1111/j.1399-0004.1992.tb03242.xTest