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Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome
Meyer, G., Donner, H., Herwig, J., Böhles, H., Usadel, K. H., Badenhoop, K.
Published in Clinical endocrinology (Oxford) (01.03.2001)
Published in Clinical endocrinology (Oxford) (01.03.2001)
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Autosomal recessive hypercholesterolaemia: Discrimination of ARH protein and LDLR function in the homozygous FH phenotype
Abera, Aron B., Marais, A. David, Raal, Frederick J., Leisegang, Felicity, Jones, Sheena, George, Peter, Henderson, Howard E.
Published in Clinica chimica acta (01.03.2007)
Published in Clinica chimica acta (01.03.2007)
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Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients
Mebed, Reem, Ali, Yasser B.M., Solouma, Nahed, Eldib, Amr, Amer, Mahmoud, Osman, Ahmed
Published in The Egyptian journal of medical human genetics (01.10.2015)
Published in The Egyptian journal of medical human genetics (01.10.2015)
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A Missense Mutation in A Consanguineous Family
Mustafa, Saima, Hussain, Malik Fiaz, Latif, Muhammad, Ijaz, Maryam, Asif, Muhammad, Hassan, Mubashir, Faisal, Muhammad, Iqbal, Furhan
Published in Genes (01.11.2022)
Published in Genes (01.11.2022)
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Genetic testing for atrioventricular septal defect
Rakhmanov, Yeltay, Maltese, Paolo Enrico, Paolacci, Stefano, Fanelli, Francesca, Beccari, Tommaso, Dundar, Munis, Bertelli, Matteo
Published in The eurobiotech journal (01.09.2018)
Published in The eurobiotech journal (01.09.2018)
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Modulators of CFTR protein function in the treatment of cystic fibrosis - a literature review
Chojęta, Dariusz, Mierzwa, Monika, Wróblewski, Hubert, Zimna, Aleksandra, Zygmunt, Ewelina, Kozłowska, Anna, Łysiak, Katarzyna
Published in Journal of education, health and sport (09.08.2022)
Published in Journal of education, health and sport (09.08.2022)
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Hereditary and Non-hereditary Pattern of Deafness in Golestan Province, Iran
Morteza Oladnabi, Elham Hasheminasabgorji, Mahdi Mohammadi, Sahand Lotfi, Javad Hamlevar, Farzad Dastaviz, Abouzar Bagheri
Published in Majallah-i dānishgāh-i ulū m-i pizishkī Māzandarān (01.08.2021)
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Published in Majallah-i dānishgāh-i ulū m-i pizishkī Māzandarān (01.08.2021)
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Prevalence of Human GH-1 Gene Alterations in Patients with Isolated Growth Hormone Deficiency
Wagner, Johann K, Eblé, Andrée, Hindmarsh, Peter C, Mullis, Primus E
Published in Pediatric research (01.01.1998)
Published in Pediatric research (01.01.1998)
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Evaluation of Glomerular functions in Patients with SCA in Maiduguri North-eastern Nigeria: a recommendation for early assessment and detection of dysfunction in a resource-poor setting
AG, Farouk, MS, Yauba, AI, Rabasa, A, Yerima, MM, Asheikh, RA, Imam
Published in Kanem journal of medical sciences (25.06.2021)
Published in Kanem journal of medical sciences (25.06.2021)
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EVALUATION OF GLOMERULAR FUNCTIONS IN PATIENTS WITH SCA IN MAIDUGURI NORTH-EASTERN NIGERIA: A RECOMMENDATION FOR EARLY ASSESSMENT AND DETECTION OF DYSFUNCTION IN A RESOURCE-POOR SETTING
AG, Farouk, MS, Yauba, A, Yerima, MM, Asheikh, RA, Imam, AI, Rabasa
Published in Kanem journal of medical sciences (25.06.2021)
Published in Kanem journal of medical sciences (25.06.2021)
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Hypertrichosis Cubiti (Hairy Elbow Syndrome): A Clue to a Malformation Syndrome
Polizzi, A., Pavone, P., Ciancio, E., Rosa, C. La, Sorge, G., Ruggieri, M.
Published in Journal of Pediatric Endocrinology and Metabolism (01.01.2005)
Published in Journal of Pediatric Endocrinology and Metabolism (01.01.2005)
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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing
Togawa, Takao, Sugiura, Tokio, Ito, Koichi, Endo, Takeshi, Aoyama, Kohei, Ohashi, Kei, Negishi, Yutaka, Kudo, Toyoichiro, Ito, Reiko, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Kure, Shigeo, Saitoh, Shinji
Published in The Journal of pediatrics (01.04.2016)
Published in The Journal of pediatrics (01.04.2016)
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Jervell and Lange-Nielsen syndrome: neurologic and cardiologic evaluation
Ilhan, Atilla, Tuncer, Cemal, Komsuoglu, Sezer S, Kali, Sinem
Published in Pediatric neurology (01.11.1999)
Published in Pediatric neurology (01.11.1999)
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Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment
Hay, Beverly N., Martin, Julie E., Karp, Barbara, Davis, Joie, Darnell, Dirk, Solomon, Beth, Turner, Maria, Holland, Steven M., Puck, Jennifer M.
Published in American journal of medical genetics. Part A (01.03.2004)
Published in American journal of medical genetics. Part A (01.03.2004)
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Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Wangler, Michael F., Gonzaga-Jauregui, Claudia, Gambin, Tomasz, Penney, Samantha, Moss, Timothy, Chopra, Atul, Probst, Frank J., Xia, Fan, Yang, Yaping, Werlin, Steven, Eglite, Ieva, Kornejeva, Liene, Bacino, Carlos A., Baldridge, Dustin, Neul, Jeff, Lehman, Efrat Lev, Larson, Austin, Beuten, Joke, Muzny, Donna M., Jhangiani, Shalini, Gibbs, Richard A., Lupski, James R., Beaudet, Arthur
Published in PLoS genetics (01.03.2014)
Published in PLoS genetics (01.03.2014)
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