Works matching Hereditary diseases

Results: 5000
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    A no-nonsense approach to hereditary kidney disease.

    Published in:
    Pediatric Nephrology, 2020, v. 35, n. 11, p. 2031, doi. 10.1007/s00467-019-04394-5
    By:
    • Tokhmafshan, Fatima;
    • Dickinson, Kyle;
    • Akpa, Murielle M.;
    • Brasell, Emma;
    • Huertas, Pedro;
    • Goodyer, Paul R.
    Publication type:
    Article
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    Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.

    Published in:
    2020
    By:
    • Heard, Jean-Michel;
    • Vrinten, Charlotte;
    • Schlander, Michael;
    • Bellettato, Cinzia Maria;
    • van Lingen, Corine;
    • Scarpa, Maurizio;
    • the MetabERN collaboration group;
    • Matthijs, Gert;
    • Nassogne, Marie-Cécile;
    • Debray, François-Guillaume;
    • Roland, Dominique;
    • Chamova, Teodora;
    • Kozich, Viktor;
    • Pavel, Jesina;
    • Zenker, Martin;
    • Lampe, Christina;
    • Das, Anihb Martin;
    • Hennermann, Julia;
    • Kölker, Stefan;
    • Weinhold, Natalie
    Publication type:
    journal article
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    Connexin Mutations and Hereditary Diseases.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4255, doi. 10.3390/ijms23084255
    By:
    • Qiu, Yue;
    • Zheng, Jianglin;
    • Chen, Sen;
    • Sun, Yu
    Publication type:
    Article
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    Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 325, doi. 10.3390/ijms21010325
    By:
    • Zinchenko, Rena A.;
    • Makaov, Amin Kh.;
    • Marakhonov, Andrey V.;
    • Galkina, Varvara A.;
    • Kadyshev, Vitaly V.;
    • El'chinova, Galina I.;
    • Dadali, Elena L.;
    • Mikhailova, Lyudmila K.;
    • Petrova, Nika V.;
    • Petrina, Nina E.;
    • Vasilyeva, Tatyana A.;
    • Gundorova, Polina;
    • Polyakov, Alexander V.;
    • Alexandrova, Oksana Y.;
    • Kutsev, Sergey I.;
    • Ginter, Eugeny K.
    Publication type:
    Article
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    Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

    Published in:
    Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1245, doi. 10.1007/s10815-024-03057-1
    By:
    • Zou, Weiwei;
    • Li, Min;
    • Wang, Xiaolei;
    • Lu, Hedong;
    • Hao, Yan;
    • Chen, Dawei;
    • Zhu, Shasha;
    • Ji, Dongmei;
    • Zhang, Zhiguo;
    • Zhou, Ping;
    • Cao, Yunxia
    Publication type:
    Article
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    Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1365, doi. 10.3390/jcm9051365
    By:
    • Bordet, Céline;
    • Brice, Sandrine;
    • Maupain, Carole;
    • Gandjbakhch, Estelle;
    • Isidor, Bertrand;
    • Palmyre, Aurélien;
    • Moerman, Alexandre;
    • Toutain, Annick;
    • Akloul, Linda;
    • Brehin, Anne-Claire;
    • Sawka, Caroline;
    • Rooryck, Caroline;
    • Schaefer, Elise;
    • Nguyen, Karine;
    • Dupin Deguine, Delphine;
    • Rouzier, Cécile;
    • Billy, Gipsy;
    • Séné, Krystelle;
    • Denjoy, Isabelle;
    • Leheup, Bruno
    Publication type:
    Article
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    Medical Genetic Study of Hereditary Diseases in Abazins of the Karachay-Cherkess Republic.

    Published in:
    Russian Journal of Genetics, 2018, v. 54, n. 6, p. 703, doi. 10.1134/S1022795418060170
    By:
    • Zinchenko, R. A.;
    • Makaov, A. Kh.;
    • Kadyshev, V. V.;
    • Galkina, V. A.;
    • Dadali, E. L.;
    • Shurygina, M. F.;
    • El’chinova, G. I.;
    • Mikhailova, L. K.;
    • Marakhonov, A. V.;
    • Vasilyeva, T. A.;
    • Petrova, N. V.;
    • Gundorova, P.;
    • Tanas, A. S.;
    • Strelnikov, V. V.;
    • Polyakov, A. V.;
    • Ginter, E. K.
    Publication type:
    Article
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    Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery.

    Published in:
    Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0727-6
    By:
    • Caffarelli, Carlo;
    • Santamaria, Francesca;
    • Mastrorilli, Carla;
    • Santoro, Angelica;
    • Iovane, Brunella;
    • Petraroli, Maddalena;
    • Gaeta, Valeria;
    • Di Pinto, Rosita;
    • Borrelli, Melissa;
    • Bernasconi, Sergio;
    • Corsello, Giovanni
    Publication type:
    Article
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    Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype–Phenotype Correlations.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 11173, doi. 10.3390/ijms252011173
    By:
    • Butnariu, Lăcrămioara Ionela;
    • Russu, Georgiana;
    • Luca, Alina-Costina;
    • Sandu, Constantin;
    • Trandafir, Laura Mihaela;
    • Vasiliu, Ioana;
    • Popa, Setalia;
    • Ghiga, Gabriela;
    • Bălănescu, Laura;
    • Țarcă, Elena
    Publication type:
    Article
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    Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic.

    Published in:
    Russian Journal of Genetics, 2018, v. 54, n. 7, p. 858, doi. 10.1134/S1022795418070165
    By:
    • Zinchenko, R. A.;
    • Makaov, A. Kh.;
    • Kadyshev, V. V.;
    • Galkina, V. A.;
    • Dadali, E. L.;
    • Mikhailova, L. K.;
    • Shurygina, M. F.;
    • Marakhonov, A. V.;
    • Petrova, N. V.;
    • Petrina, N. E.;
    • El’chinonva, G. I.;
    • Gundorova, P.;
    • Tanas, A. S.;
    • Strelnikov, V. V.;
    • Polyakov, A. V.;
    • Ginter, E. K.
    Publication type:
    Article
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    Rupture of hepatic aneurysm complicating hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu disease) for which hepatic arterial coil embolization was effective.

    Published in:
    Journal of Gastroenterology & Hepatology, 2007, v. 22, n. 12, p. 2352, doi. 10.1111/j.1440-1746.2006.03456.x
    By:
    • Miyabe, Katsuyuki;
    • Akita, Shinji;
    • Kitajima, Yasuhiro;
    • Hirai, Masaaki;
    • Naitoh, Itaru;
    • Hayashi, Kazuki;
    • Okamoto, Tetsu;
    • Okayama, Yasutaka;
    • Gotoh, Kazuo;
    • Ohara, Hirotaka;
    • Joh, Takashi;
    • Yokoyama, Yoshifumi;
    • Itoh, Makoto
    Publication type:
    Article
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