Works matching DE "HUMAN abnormalities"

Results: 5000
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    Fibromatosis de Colli: Reporte de un caso.

    Published in:
    Salud Uninorte, 2025, v. 41, n. 2, p. 687, doi. 10.14482/sun.41.02.042.616
    By:
    • CUELLO DÍAZ, MARÍA;
    • PABA ZARANTE, JESSIE;
    • BOLAÑOS BOSSIO, SUSANA;
    • MUÑOZ ÁLVAREZ, NELSON
    Publication type:
    Article
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    Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

    Published in:
    Clinical Genetics, 2025, v. 108, n. 1, p. 33, doi. 10.1111/cge.14712
    By:
    • El‐Dessouky, Sara H.;
    • Sharaf‐Eldin, Wessam E.;
    • Aboulghar, Mona M.;
    • Mousa, Hatem A.;
    • Zaki, Maha S.;
    • Maroofian, Reza;
    • Senousy, Sameh M.;
    • Eid, Maha M.;
    • Gaafar, Hassan M.;
    • Ebrashy, Alaa;
    • Shikhah, Ahmed Z.;
    • Abdelfattah, Ahmed N.;
    • Ezz‐Elarab, Ahmed;
    • Ateya, Mohamed I.;
    • Hosny, Adel;
    • Youssef, Mohamed Abdefattah;
    • Abdella, Rana;
    • Issa, Mahmoud Y.;
    • Matsa, Lova S.;
    • Abdelaziz, Nahla
    Publication type:
    Article
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    Farklı Kromozom 18 Genotipleri Olan Olguların Gelişimsel İzlemi.

    Published in:
    Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 86
    By:
    • Seven, Efsun Korkmaz;
    • Vatansever, Zehra;
    • Solmaz, Merve Betül;
    • Civelek Ürey, Gülten Burcu;
    • Bozat, Gökçe Özyılmaz;
    • Akın, Ezgi Özalp;
    • Pekcici, Bahar Bingöler
    Publication type:
    Article
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    Enflamatuvar Barsak Hastalığından Kimyasal Kolite: Öykünün Önemi.

    Published in:
    Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 86
    By:
    • Arslan, Kübra;
    • Özdemir, Serpil;
    • Teke, Selçuk;
    • Ergün, Ergun;
    • Demir, Arzu Meltem;
    • Kırsaçlıoğlu, Ceyda Tuna;
    • Yağmurlu, Aydın;
    • Fitöz, Ömer Suat;
    • Kuloğlu, Zarife;
    • Tanca, Aydan Kansu
    Publication type:
    Article
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    Microtia.

    Published in:
    Canadian Medical Association Journal (CMAJ), 2025, v. 197, n. 24, p. E691, doi. 10.1503/cmaj.250384
    By:
    • You, Peng;
    • Liu, Yi-Chun;
    • Symonette, Caitlin
    Publication type:
    Article
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    Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

    Published in:
    Science Translational Medicine, 2025, v. 17, n. 805, p. 1, doi. 10.1126/scitranslmed.adt2426
    By:
    • Kato, Kohji;
    • Nishio, Yosuke;
    • McMillan, Kirsty J.;
    • Al-Maraghi, Aljazi;
    • Kroes, Hester Y.;
    • Abdel-Hamid, Mohamed S.;
    • Jones, Emma;
    • Shaw, Shrestha;
    • Yoshida, Aya;
    • Otsuji, Shiomi;
    • Murofushi, Yuka;
    • Aamer, Waleed;
    • Bhat, Ajaz A.;
    • AlRayahi, Jehan;
    • Al-Shabeeb Akil, Ammira S.;
    • Aliyev, Elbay;
    • van Binsbergen, Ellen;
    • Janssen, Etienne J.;
    • Mehrin, Kazi Mahnaz;
    • Oishi, Hisashi
    Publication type:
    Article
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    The Orthopedic Strategy for Patients with Larsen Syndrome.

    Published in:
    Surgical Techniques Development, 2025, v. 14, n. 2, p. 10, doi. 10.3390/std14020010
    By:
    • Kaissi, Ali Al;
    • Gubin, Alexander;
    • Ryabykh, Sergey;
    • Dougales, Vasileios;
    • Al Kaissi, Hamza;
    • Kircher, Susanne Gerit;
    • Grill, Franz
    Publication type:
    Article
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    MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.

    Published in:
    Genes, 2025, v. 16, n. 6, p. 707, doi. 10.3390/genes16060707
    By:
    • Cabet, Sara;
    • Ghersi-Egea, Jean-François;
    • Khung-Savatovsky, Suonavy;
    • Guimiot, Fabien;
    • Putoux, Audrey;
    • Sabatier, Isabelle;
    • Fernandez, Carla;
    • Raymond, Laure;
    • Mortreux, Jérémie;
    • Laurichesse Delmas, Hélène;
    • Cuillier, Fabrice Eric;
    • Ho, Fabien;
    • Lesca, Gaetan;
    • Alessandri, Jean-Luc;
    • Guibaud, Laurent
    Publication type:
    Article
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    Comparative Analysis of Two Zika Virus Isolates in a Rhesus Macaque Pregnancy Model.

    Published in:
    Viruses (1999-4915), 2025, v. 17, n. 6, p. 762, doi. 10.3390/v17060762
    By:
    • Jaeger, Hannah K.;
    • Smith, Jessica L.;
    • Parkins, Christopher J.;
    • Haese, Nicole N.;
    • Kreklywich, Craig N.;
    • Denton, Michael;
    • Labriola, Caralyn S.;
    • Axthelm, Michael K.;
    • Barber-Axthelm, Aaron;
    • Chun, Kim;
    • Swanson, Tonya;
    • D'Mello, Rahul J.;
    • Morgan, Terry K.;
    • Smith, Duncan R.;
    • Lo, Jamie O.;
    • Hirsch, Alec J.;
    • Roberts, Victoria H. J.;
    • Streblow, Daniel N.
    Publication type:
    Article
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    Off We Go Like a Herd of Turtles.

    Published in:
    WSQ: Women's Studies Quarterly, 2015, v. 43, n. 1/2, p. 130, doi. 10.1353/wsq.2015.0025
    By:
    • Murphy, AprilJo
    Publication type:
    Article
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    Peters anomaly: A 5‐year experience.

    Published in:
    Pediatric Anesthesia, 2020, v. 30, n. 5, p. 577, doi. 10.1111/pan.13843
    By:
    • Salik, Irim;
    • Gupta, Abhishek;
    • Tara, Arjun;
    • Zaidman, Gerald;
    • Barst, Samuel;
    • Veyckemans, Francis
    Publication type:
    Article