Works matching IS 00099163 AND DT 2024 AND VI 106 AND IP 1

Results: 15

FGF12 copy number variant associated with epileptic encephalopathy.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 114, doi. 10.1111/cge.14542
By:
- Abraham, Anna;
- Ramsey, Keri;
- Belnap, Newell;
- Szelinger, Szabolcs;
- Jepsen, Wayne;
- Balak, Chris;
- Sanchez‐Castillo, Meredith;
- Naymik, Marcus;
- Bonfitto, Anna;
- Rangasamy, Sampathkumar;
- Kruglyak, Semyon;
- Huentelman, Matthew;
- Narayanan, Vinodh
Publication type:
Article
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 13, doi. 10.1111/cge.14533
By:
- Giardina, Emiliano;
- Camaño, Pilar;
- Burton‐Jones, Sarah;
- Ravenscroft, Gina;
- Henning, Franclo;
- Magdinier, Frederique;
- van der Stoep, Nienke;
- van der Vliet, Patrick J.;
- Bernard, Rafaëlle;
- Tomaselli, Pedro J.;
- Davis, Mark R.;
- Nishino, Ichizo;
- Oflazer, Piraye;
- Race, Valerie;
- Vishnu, Venugopalan Y.;
- Williams, Victoria;
- Sobreira, Cláudia F. R.;
- van der Maarel, Silvere M.;
- Moore, Steve A.;
- Voermans, Nicol C.
Publication type:
Article
A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 66, doi. 10.1111/cge.14512
By:
- AlAbdi, Lama;
- Rahbeeni, Zuhair;
- Maddirevula, Sateesh;
- Helaby, Rana;
- Abdulwahab, Firdous;
- Khan, Arif O.;
- Riley, Lisa G.;
- Alhashem, Amal;
- Chassaing, Nicolas;
- Jamieson, Robyn V.;
- Alkuraya, Fowzan S.
Publication type:
Article
Usmani‐Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 109, doi. 10.1111/cge.14531
By:
- Gnazzo, Maria;
- Pascolini, Giulia;
- Parlapiano, Giovanni;
- Petrizzelli, Francesco;
- Perrino, Daniele;
- Porco, Luigina;
- Bartuli, Andrea;
- Novelli, Antonio;
- Baban, Anwar
Publication type:
Article
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 95, doi. 10.1111/cge.14522
By:
- Parobek, Christian M.;
- Zemet, Roni;
- Shanahan, Matthew A.;
- Burnett, Brian A.;
- Mizerik, Elizabeth;
- Rosenfeld, Jill A.;
- Vossaert, Liesbeth;
- Clark, Steven L.;
- Hunter, Jill V.;
- Lalani, Seema R.
Publication type:
Article
Regulation of N<sup>6</sup>‐methyladenosine modification in erythropoiesis and thalassemia.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 3, doi. 10.1111/cge.14518
By:
- Zheng, Yanping;
- Lin, Siyang;
- Chen, Meihuan;
- Xu, Liangpu;
- Huang, Hailong
Publication type:
Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
By:
- Gerasimenko, Anna;
- Mignot, Cyril;
- Naggara, Olivier;
- Coulet, Florence;
- Ekram, Samar;
- Heide, Solveig;
- Sorato, Clarisse;
- Mazowiecki, Maxime;
- Perrin, Laurence;
- Colas, Chrystelle;
- Cusin, Veronica;
- Caux, Frédéric;
- Dardenne, Antoine;
- El Chehadeh, Salima;
- Verloes, Alain;
- Maurey, Hélène;
- Afenjar, Alexandra;
- Petit, Florence;
- Barete, Stéphane;
- Boespflug‐Tanguy, Odile
Publication type:
Article
Genome‐wide association study of cardiometabolic multimorbidity in the UK Biobank.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 72, doi. 10.1111/cge.14513
By:
- Zhao, Chenxuan;
- Ma, Tianqi;
- Cheng, Xunjie;
- Zhang, Guogang;
- Bai, Yongping
Publication type:
Article
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 102, doi. 10.1111/cge.14526
By:
- Jordan, Pénélope;
- Verebi, Camille;
- Hervé, Bérénice;
- Perol, Sandrine;
- Chakhtoura, Zeina;
- Courtillot, Carine;
- Bachelot, Anne;
- Karila, Daphné;
- Renard, Céline;
- Grouthier, Virginie;
- de la Croix, Stanislas Mulot;
- Bernard, Valérie;
- Fouveaut, Corinne;
- de la Perrière, Aude Brac;
- Jonard‐Catteau, Sophie;
- Touraine, Philippe;
- Plu‐Bureau, Geneviève;
- Dupont, Jean Michel;
- Christin‐Maitre, Sophie;
- Bienvenu, Thierry
Publication type:
Article
Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 56, doi. 10.1111/cge.14510
By:
- Yao, Li;
- Cao, Yuwen;
- Zhang, Chao;
- Huang, Xiaojun;
- Tian, Wotu;
- Cao, Li
Publication type:
Article
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 47, doi. 10.1111/cge.14509
By:
- Kakar, Naseebullah;
- Rehman, Fazal ur;
- Kaur, Ramandeep;
- Bhavani, Gandham SriLakshmi;
- Goyal, Manisha;
- Shah, Hitesh;
- Kaur, Karandeep;
- Sodhi, Kushaljit Singh;
- Kubisch, Christian;
- Borck, Guntram;
- Panigrahi, Inusha;
- Girisha, Katta Mohan;
- Kornak, Uwe;
- Spielmann, Malte
Publication type:
Article
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 82, doi. 10.1111/cge.14508
By:
- Khalaf, Tamam;
- Al Ojaimi, Mode;
- Saleh, Dina Amin;
- Sulaiman, Alena;
- Sohal, Aman P.;
- Khan, Arif;
- El‐Hattab, Ayman W.
Publication type:
Article
Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 37, doi. 10.1111/cge.14504
By:
- Pham, Caroline;
- Koopmann, Tamara T.;
- Vinocur, Jeffrey M.;
- Blom, Nico A.;
- Nogueira Silbiger, Vivian;
- Mittal, Kirti;
- Bootsma, Marianne;
- Palm, Kaylin C. A.;
- Clur, Sally‐Ann B.;
- Barge‐Schaapveld, Daniela Q. C. M.;
- Hamilton, Robert M.;
- Lodder, Elisabeth M.
Publication type:
Article
A hemizygous loss‐of‐function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 27, doi. 10.1111/cge.14500
By:
- Luo, Chen;
- Chen, Zixu;
- Meng, Lanlan;
- Tan, Chen;
- He, Wenbin;
- Tu, Chaofeng;
- Du, Juan;
- Lu, Guang‐Xiu;
- Lin, Ge;
- Tan, Yue‐Qiu;
- Hu, Tong‐Yao
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 1, doi. 10.1111/cge.14372
Publication type:
Article