Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 4

Results: 15

Motivations to learn genomic information are not exceptional: Lessons from behavioral science.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 397, doi. 10.1111/cge.14401

By:

Taber, Jennifer M.;
Peters, Ellen;
Klein, William M. P.;
Cameron, Linda D.;
Turbitt, Erin;
Biesecker, Barbara B.

Publication type:

Article

Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 443, doi. 10.1111/cge.14398

By:

Gnanasekaran, Harshavardhini;
Chandrasekhar, Sathya Priya;
Kandeeban, Suganya;
Periyasamy, Porkodi;
Bhende, Muna;
Khetan, Vikas;
Gupta, Neerja;
Kabra, Madhulika;
Namboothri, Sheela;
Sen, Parveen;
Sripriya, Sarangapani

Publication type:

Article

Medical and psychosocial outcomes of state‐funded population genomic screening.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 434, doi. 10.1111/cge.14394

By:

Cannon, Ashley;
McMillan, Olivia;
Kelley, Whitley V.;
East, Kelly M.;
Cochran, Meagan E.;
Miskell, Edrika L.;
Moss, Irene P.;
Garner‐Duckworth, Sherilyn;
Redden, David T.;
Might, Matthew;
Barsh, Gregory S.;
Korf, Bruce R.

Publication type:

Article

Spanish mental health residents' perspectives about residency education on the genetics of psychiatric disorders: A cross‐sectional survey.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 427, doi. 10.1111/cge.14393

By:

Saura, Paola;
García‐Virumbrales, Juan;
Carrasco, Juan Pablo;
Pérez‐Carasol, Miguel;
Colomer, Lluc;
Camacho‐Rubio, Javier;
Zorilla, Iñaki;
Vilella, Elisabet

Publication type:

Article

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 418, doi. 10.1111/cge.14391

By:

Jedlickova, Jana;
Vajter, Marie;
Barta, Tomas;
Black, Graeme C. M.;
Perveen, Rahat;
Mares, Jan;
Fichtl, Marek;
Kousal, Bohdan;
Dudakova, Lubica;
Liskova, Petra

Publication type:

Article

Nonsense variant in a consanguineous family expands the phenotype of KPTN gene‐related syndrome to include hearing impairment.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 499, doi. 10.1111/cge.14390

By:

Liaqat, Khurram;
Bharadwaj, Thashi;
Shah, Khadim;
Nasir, Abdul;
Acharya, Anushree;
Khan, Saadullah;
Ullah, Irfan;
Schrauwen, Isabelle;
Ahmad, Wasim;
Leal, Suzanne M.

Publication type:

Article

Biallelic loss of function variant in ZNF808 is associated with non‐syndromic neonatal diabetes.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 497, doi. 10.1111/cge.14389

By:

Alqahtani, Mohammad Awwad;
Al‐Qahtani, Saleh M.;
Al‐Falki, Yahya H.;
Alharby, Essa;
Albulym, Obaid Mohammed;
Almontashiri, Naif A. M.

Publication type:

Article

Intratumor heterogeneity in colorectal cancer: Distribution of tumor suppressor gene variants with regard to patient lymph node status.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 406, doi. 10.1111/cge.14388

By:

Wątor, Gracjan;
Seweryn, Michał;
Kapusta, Przemysław;
Świrta, Jarosław;
Wałęga, Piotr;
Barczyński, Marcin;
Wołkow, Paweł P.

Publication type:

Article

Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 491, doi. 10.1111/cge.14381

By:

Kaufmann, Lukas;
Pilic, Johannes;
Auinger, Lisa;
Mayer, Anna‐Lena;
Blatterer, Jasmin;
Semmler‐Bruckner, Johann;
Abbas, Safdar;
Rehman, Khurram;
Ayaz, Muhammad;
Graier, Wolfgang F.;
Malli, Roland;
Petek, Erwin;
Wagner, Klaus;
Al Kaissi, Ali;
Khan, Muzammil Ahmad;
Windpassinger, Christian

Publication type:

Article

Pathogenic bi‐allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 486, doi. 10.1111/cge.14380

By:

Qi, Yu;
Wang, Yiyang;
Li, Weilin;
Zhuang, Shuning;
Li, Shan;
Xu, Keyan;
Qin, Yingying;
Guo, Ting

Publication type:

Article

Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 479, doi. 10.1111/cge.14379

By:

Dias, Andreia;
Santos, Mariana;
Carvalho, Estefânia;
Felício, Daniela;
Silva, Paulo;
Alves, Ivânia;
Pinho, Teresa;
Sousa, Alda;
Alves‐Ferreira, Miguel;
Lemos, Carolina

Publication type:

Article

Lymphedema is associated with CELSR1 in Phelan–McDermid syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 472, doi. 10.1111/cge.14364

By:

Smith, Marie S.;
Sarasua, Sara M.;
Rogers, Curtis;
Phelan, Katy;
Boccuto, Luigi

Publication type:

Article

Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 466, doi. 10.1111/cge.14363

By:

Dana, Jérémy;
Dorval, Guillaume;
Martin, Christine Saint;
Belhous, Kahina;
Levy, Raphael;
Marlin, Sandrine;
De Bie, Isabelle;
Mautret‐Godefroy, Manon;
Rausell, Antonio;
Rio, Marlène;
Boucher‐Brischoux, Elise;
Attié‐Bitach, Tania;
Boddaert, Nathalie;
Pingault, Véronique

Publication type:

Article

A novel homozygous variant in ZFP36L2 cause female infertility due to oocyte maturation defect.

Published in:

Clinical Genetics, 2023, v. 104, n. 4, p. 461, doi. 10.1111/cge.14362

By:

Zhou, Zhou;
Fan, Huizhen;
Shi, Rong;
Zeng, Yang;
Liu, Ruyi;
Gu, Hao;
Li, Qiaoli;
Sang, Qing;
Wang, Lei;
Shi, Juanzi;
Chen, Biaobang

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 104, n. 4, p. 395, doi. 10.1111/cge.14161
Publication type:: Article