Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 3

Results: 17

Genotype‐phenotype analysis of selective failure of tooth eruption—A systematic review.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 287, doi. 10.1111/cge.14400

By:

Guo, Xinyue;
Duan, Xiaohong

Publication type:

Article

Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL‐C and LPA genetic scores.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 334, doi. 10.1111/cge.14387

By:

Schwaninger, Gunda;
Forer, Lukas;
Ebenbichler, Christoph;
Dieplinger, Hans;
Kronenberg, Florian;
Zschocke, Johannes;
Witsch‐Baumgartner, Martina

Publication type:

Article

Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 350, doi. 10.1111/cge.14354

By:

Nan, Haitian;
Liu, Li;
Chen, Zhongyun;
Chu, Min;
Li, Jieying;
Jing, Donglai;
Wang, Yihao;
Wu, Liyong

Publication type:

Article

Development and validation of a novel nomogram to predict the impact of the polymorphism of the ICAM‐1 gene on the prognosis of ischemic cardiomyopathy.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 313, doi. 10.1111/cge.14385

By:

Naman, Tuersunjiang;
Abuduhalike, Refukaiti;
Abudouwayiti, Aihaidan;
Sun, Juan;
Mahemuti, Ailiman

Publication type:

Article

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 298, doi. 10.1111/cge.14382

By:

Jung, Jiwon;
Lee, Joo Hoon;
Seo, Go Hun;
Keum, Changwon;
Kang, Hee Gyung;
Cho, Heeyeon;
Lee, Hajeong;
Park, Su‐Kil;
Baek, Chung Hee;
Han, Ro;
Lee, Sang Taek;
Cho, Min Hyun;
Yim, Hyung Eun;
Koo, Ja wook;
Lee, Beom Hee

Publication type:

Article

GNAS gene mutations affecting XLαs and bone health: A long neglected relationship.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 279, doi. 10.1111/cge.14378

By:

Xie, Yanni;
Chen, Xiang;
Xie, Ying;
Yu, Xijie

Publication type:

Article

Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 377, doi. 10.1111/cge.14360

By:

Berger, Seth I.;
Pitsava, Georgia;
Cohen, Andrea J.;
Délot, Emmanuèle C.;
LoTempio, Jonathan;
Andrew, Erin Hallie;
Martin, Gloria Mas;
Marmolejos, Sofia;
Albert, Jessica;
Meltzer, Beatrix;
Fraser, Jamie;
Regier, Debra S.;
Kahn‐Kirby, Amanda H.;
Smith, Erica;
Knoblach, Susan;
Ko, Arthur;
Fusaro, Vincent A.;
Vilain, Eric

Publication type:

Article

A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 324, doi. 10.1111/cge.14386

By:

Yousaf, Hammad;
Rehmat, Shagufta;
Jameel, Muhammad;
Ibrahim, Rabab;
Hashmi, Sohana Nadeem;
Makhdoom, Ehtisham Ul Haq;
Iwaszkiewicz, Justyna;
Saadi, Saadia Maryam;
Tariq, Muhammad;
Baig, Shahid M.;
Toft, Mathias;
Fatima, Ambrin;
Iqbal, Zafar

Publication type:

Article

Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 365, doi. 10.1111/cge.14358

By:

Riant, Florence;
Burglen, Lydie;
Corpechot, Michaelle;
Robert, Julien;
Durr, Alexandra;
Solé, Guilhem;
Petit, Florence;
Freihuber, Cécile;
De Marco, Olivier;
Sarret, Catherine;
Castelnovo, Giovanni;
Devillard, Françoise;
Afenjar, Alexandra;
Héron, Bénédicte;
Lasserve, Elisabeth Tournier

Publication type:

Article

A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 356, doi. 10.1111/cge.14357

By:

Abdel‐Salam, Ghada M. H.;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

Pigmentation abnormalities in Coffin‐Siris syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 393, doi. 10.1111/cge.14356

By:

Zapata‐Aldana, Eugenio;
Ceballos‐Sáenz, Delia;
Vásquez‐Ríos, Jorge Rodrigo;
Vera‐Alvarez, Lilian;
Carrillo‐Soler, Jorge

Publication type:

Article

Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 390, doi. 10.1111/cge.14355

By:

Hashim, Mona;
Stewart, Helen;
Yu, Jing;
Banos‐Pinero, Benito;
Pagnamenta, Alistair T.;
Taylor, Jenny C.

Publication type:

Article

Novel biallelic variants expand the phenotype of NAA20‐related syndrome.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 371, doi. 10.1111/cge.14359

By:

D'Onofrio, Gianluca;
Cuccurullo, Claudia;
Larsen, Silje Kathrine;
Severino, Mariasavina;
D'Amico, Alessandra;
Brønstad, Kirsten;
AlOwain, Mohammed;
Morrison, Jennifer L.;
Wheeler, Patricia G.;
Webb, Bryn D.;
Alfalah, Abdullah;
Iacomino, Michele;
Uva, Paolo;
Coppola, Antonietta;
Merla, Giuseppe;
Salpietro, Vincenzo Damiano;
Zara, Federico;
Striano, Pasquale;
Accogli, Andrea;
Arnesen, Thomas

Publication type:

Article

A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 387, doi. 10.1111/cge.14350

By:

Wen, Qi;
Zhu, Wenjia;
Wen, Xinmei;
Zhang, Shu;
Sun, Yanan;
Li, Yun;
Wang, Jingsi;
Wang, Yaye;
Duo, Jianying;
Huang, Yue;
Lu, Yan;
Di, Li;
Xu, Min;
Wang, Min;
Chen, Hai;
Da, Yuwei

Publication type:

Article

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 344, doi. 10.1111/cge.14348

By:

Elbendary, Hasnaa M.;
Marafi, Dana;
Saad, Ahmed K.;
Elhossini, Rasha;
Duan, Ruizhi;
Rafat, Karima;
Jhangiani, Shalini N.;
Gibbs, Richard A.;
Pehlivan, Davut;
Calame, Daniel G.;
Posey, Jennifer E.;
Lupski, James R.;
Zaki, Maha S.

Publication type:

Article

Discovering the ANK2‐related autism phenotype.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 384, doi. 10.1111/cge.14347

By:

Guissart, Claire;
Polge, Anne;
Durand, Nelly;
Miret, Ania;
Lumbroso, Serge;
Francannet, Christine;
Mouzat, Kevin

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2023, v. 104, n. 3, p. 277, doi. 10.1111/cge.14159
Publication type:: Article