Works matching IS 00099163 AND DT 2024 AND VI 105 AND IP 6

Results: 13
    1
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    BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 589, doi. 10.1111/cge.14507
    By:
    • West, Elizabeth Casey;
    • Chiappetta, Marco;
    • Mattingly, Aubrey Anne;
    • Congedo, Maria Teresa;
    • Evangelista, Jessica;
    • Campanella, Annalisa;
    • Sassorossi, Carolina;
    • Flamini, Sara;
    • Rossi, Teresa;
    • Pistoni, Mariaelena;
    • Abenavoli, Ludovico;
    • Margaritora, Stefano;
    • Lococo, Filippo;
    • Boccuto, Luigi
    Publication type:
    Article
    3

    Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 676, doi. 10.1111/cge.14505
    By:
    • Ader, Flavie;
    • Jedraszak, Guillaume;
    • Janin, Alexandre;
    • Billon, Clarisse;
    • Buisson, Nathalie Roux;
    • Bloch, Adrien;
    • Bensalah, Meriem;
    • De Sandre‐Giovannoli, Anachiara;
    • Goudal, Adeline;
    • Marsili, Luisa;
    • Cazeneuve, Cécile;
    • Charron, Philippe;
    • Millat, Gilles;
    • Richard, Pascale
    Publication type:
    Article
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    6
    7

    Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 655, doi. 10.1111/cge.14498
    By:
    • Rots, Dmitrijs;
    • Rooney, Kathleen;
    • Relator, Raissa;
    • Kerkhof, Jennifer;
    • McConkey, Haley;
    • Pfundt, Rolph;
    • Marcelis, Carlo;
    • Willemsen, Marjolein H.;
    • van Hagen, Johanna M.;
    • Zwijnenburg, Petra;
    • Alders, Marielle;
    • Õunap, Katrin;
    • Reimand, Tiia;
    • Fjodorova, Olga;
    • Berland, Siren;
    • Liahjell, Eva Benedicte;
    • Bojovic, Ognjen;
    • Kriek, Marjolein;
    • Ruivenkamp, Claudia;
    • Bonati, Maria Teresa
    Publication type:
    Article
    8

    Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 639, doi. 10.1111/cge.14495
    By:
    • Majethia, Purvi;
    • Kaur, Namanpreet;
    • Mascarenhas, Selinda;
    • Rao, Lakshmi Priya;
    • Pande, Shruti;
    • Narayanan, Dhanya Lakshmi;
    • Bhat, Vivekananda;
    • Nayak, Shalini S.;
    • Nair, Karthik Vijay;
    • Prasannakumar, Adarsh Pooradan;
    • Chaurasia, Ankur;
    • Hunakunti, Bhagesh;
    • Jadhav, Nalesh;
    • Farooqui, Sheeba;
    • Yeole, Mayuri;
    • Kothiwale, Vishaka;
    • Naik, Rohit;
    • Bhat, Veena;
    • Aroor, Shrikiran;
    • Lewis, Leslie
    Publication type:
    Article
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    10

    Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 620, doi. 10.1111/cge.14492
    By:
    • Almannai, Mohammed;
    • Marafi, Dana;
    • Zaki, Maha S.;
    • Maroofian, Reza;
    • Efthymiou, Stephanie;
    • Saadi, Nebal Waill;
    • Filimban, Bilal;
    • Dafsari, Hormos Salimi;
    • Rahman, Fatima;
    • Maqbool, Shazia;
    • Faqeih, Eissa;
    • Al Mutairi, Fuad;
    • Alsharhan, Hind;
    • Abdelaty, Omar;
    • Bin‐Hasan, Saadoun;
    • Duan, Ruizhi;
    • Noureldeen, Mahmoud M.;
    • Alqattan, Alaa;
    • Houlden, Henry;
    • Hunter, Jill V.
    Publication type:
    Article
    11

    Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 611, doi. 10.1111/cge.14491
    By:
    • Mehvari, Sepideh;
    • Karimian Fathi, Nahid;
    • Saki, Sara;
    • Asadnezhad, Maryam;
    • Arzhangi, Sanaz;
    • Ghodratpour, Fatemeh;
    • Mohseni, Marzieh;
    • Zare Ashrafi, Farzane;
    • Sadeghian, Saeed;
    • Boroumand, Mohammadali;
    • Shokohizadeh, Fatemeh;
    • Rostami, Elham;
    • Boroumand, Rahnama;
    • Najafipour, Reza;
    • Malekzadeh, Reza;
    • Riazalhosseini, Yasser;
    • Akbari, Mohammadreza;
    • Lathrop, Mark;
    • Najmabadi, Hossein;
    • Hosseini, Kaveh
    Publication type:
    Article
    12

    Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 596, doi. 10.1111/cge.14490
    By:
    • Turgut, Gozde Tutku;
    • Altunoglu, Umut;
    • Gulec, Cagri;
    • Sarac Sivrikoz, Tugba;
    • Kalaycı, Tuğba;
    • Toksoy, Guven;
    • Avcı, Şahin;
    • Yıldırım, Behiye Tuğçe;
    • Sayın, Gözde Yeşil;
    • Kalelioglu, Ibrahim Halil;
    • Karaman, Birsen;
    • Has, Recep;
    • Başaran, Seher;
    • Yuksel, Atil;
    • Kayserili, Hülya;
    • Uyguner, Zehra Oya
    Publication type:
    Article
    13

    Issue Information.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 6, p. 587, doi. 10.1111/cge.14371
    Publication type:
    Article