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Acquired Blue-Yellow Color Vision Defect Secondary to Macular Cone Dysfunction in Oguchi Disease
Namiki, Yuko, Takeuchi, Tomokazu, Hayashi, Takaaki, Kozaki, Kenichi, Gekka, Tamaki, Okude, Sachiyo, Tsuneoka, Hiroshi, Kitakawa, Takaaki, Kubo, Akiko
Published in JAPANESE ORTHOPTIC JOURNAL (2010)
Published in JAPANESE ORTHOPTIC JOURNAL (2010)
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Tissue Lipoprotein Lipase in Normal Individuals and in Individuals with Exogenous Hypertriglyceridemia and the Relationship of this Enzyme to Assimilation of Fat
Harlan, William R., Winesett, Preston S., Wasserman, Albert J.
Published in The Journal of clinical investigation (01.02.1967)
Published in The Journal of clinical investigation (01.02.1967)
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A Novel Mutation of the Human Luteinizing Hormone Receptor in 46XY and 46XX Sisters1
Stavrou, Stavros S., Zhu, Yuan-Shan, Cai, Li-Qun, Katz, Melissa D., Herrera, Cecilia, DeFillo-Ricart, Mariano, Imperato-McGinley, Julianne
Published in The journal of clinical endocrinology and metabolism (01.06.1998)
Published in The journal of clinical endocrinology and metabolism (01.06.1998)
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Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype
Chong, Belinda, Hegde, Madhuri, Fawkner, Matthew, Simonet, Scott, Cassinelli, Hamilton, Coker, Mahmut, Kanis, John, Seidel, Joerg, Tau, Cristina, Tüysüz, Beyhan, Yüksel, Bilgin, Love, Donald, Cundy, Tim
Published in Journal of bone and mineral research (01.12.2003)
Published in Journal of bone and mineral research (01.12.2003)
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Inheritance of very low serum dopamine-beta-hydroxylase activity
Weinshilboum, R M, Schorott, H G, Raymond, F A, Weidman, W H, Elveback, L R
Published in American journal of human genetics (01.09.1975)
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Published in American journal of human genetics (01.09.1975)
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Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population
Mumtaz, Sara, Riaz, Hafiza Fizzah, Touseef, Mohammad, Basit, Sulman, Faiyaz Ul Haque, Muhammad, Malik, Sajid
Published in Pakistan journal of medical sciences (01.11.2015)
Published in Pakistan journal of medical sciences (01.11.2015)
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ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy
Yoji Kukita, Masakazu Inazuka, Masatake Yamauchi, Toshiyuki Saito, Tada aki Hori, Osamu Nikaido, Tomoko Hashimoto-Tamaoki, Kenshi Hayashi, Tomonari Sasaki, Takashi Imai, Huaize Tian, Tomoko Tahira, Kenshi Komatsu
Published in Human Mutation (01.01.1998)
Published in Human Mutation (01.01.1998)
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Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome
Nobuyuki Takahashi, Yoshihiro Taniyama, Yukio Ikeda, Takaaki Abe, Shigeo Kure, Yasunari Muramatsu, Taro Kato, Kazuhisa Takeuchi, Kuniaki Narisawa, Keishi Abe
Published in The Journal of Clinical Endocrinology & Metabolism (01.12.1996)
Published in The Journal of Clinical Endocrinology & Metabolism (01.12.1996)
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