Works matching IS 00099163 AND DT 2019 AND VI 95 AND IP 1

Results: 21

MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 182, doi. 10.1111/cge.13462

By:

Baumann, Matthias;
Karall, Daniela;
Schreiber, Herbert;
Schlotter‐Weigel, Beate;
Stucka, Rolf;
Senderek, Jan;
Löscher, Wolfgang N.;
Strom, Tim M.;
Bauer, Peter;
Krabichler, Birgit;
Fauth, Christine;
Glaeser, Dieter

Publication type:

Article

Novel exostosin‐2 missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 165, doi. 10.1111/cge.13458

By:

Gentile, Mattia;
Ficarella, Romina;
Ponzi, Emanuela;
Antonucci, Maria F.;
Agolini, Emanuele;
Cocciadiferro, Dario;
Bellacchio, Emanuele;
Novelli, Antonio

Publication type:

Article

Molecular genetics of hypospadias and cryptorchidism recent developments.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 122, doi. 10.1111/cge.13432

By:

Kalfa, Nicolas;
Ollivier, Margot;
Bergougnoux, Anne;
Gaspari, Laura;
Philibert, Pascal;
Paris, Francoise;
Sultan, Charles

Publication type:

Article

Front Cover.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. i, doi. 10.1111/cge.13494

By:

Meester, J.A.N.;
Verstraeten, A.;
Alaerts, M.;
Schepers, D.;
Van Laer, L.;
Loeys, B.L.

Publication type:

Article

Effect of inbreeding on intellectual disability revisited by trio sequencing.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 151, doi. 10.1111/cge.13463

By:

Kahrizi, Kimia;
Hosseini, Masoumeh;
Fattahi, Zohreh;
Beheshtian, Maryam;
Mohseni, Marzieh;
Mehvari, Sepideh;
Mehrjoo, Zohreh;
Akhtarkhavari, Tara;
Ghaderi, Zhila;
Rahimi, Maryam;
Arzhangi, Sanaz;
Falahat Chian, Milad;
Sadeghinia, Farnaz;
Najmabadi, Hossein;
Pourfatemi, Fatemeh;
Mojahedi, Faezeh;
Khodaie‐Ardakani, Mohammad‐Reza;
Najafipour, Reza;
Hu, Hao;
Kalscheuer, Vera M.

Publication type:

Article

Epilepsy genetics: Current knowledge, applications, and future directions.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 95, doi. 10.1111/cge.13414

By:

Myers, K.A.;
Johnstone, D.L.;
Dyment, D.A.

Publication type:

Article

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 112, doi. 10.1111/cge.13425

By:

Bellai‐Dussault, Kara;
Nguyen, Thi Tuyet Mai;
Baratang, Nissan V.;
Jimenez‐Cruz, Daniel A.;
Campeau, Philippe M.

Publication type:

Article

Pathogenetic implication of fusion genes in acute promyelocytic leukemia and their diagnostic utility.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 41, doi. 10.1111/cge.13372

By:

Baba, S.M.;
Shah, Z.A.;
Baba, R.A.;
Pandith, A.A.

Publication type:

Article

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 177, doi. 10.1111/cge.13460

By:

Lerat, Justine;
Marlin, Sandrine;
Mezouaghi, Kheira;
Guichet, Agnes;
Genin, Emmanuelle;
Litzler, Julie;
Gesny, Roselyne;
Bonnefont, Jean‐Paul;
Jonard, Laurence;
Bonnet, Crystel;
Cartault, François;
Gherbi, Souad;
Aissa, Ines Ben;
Digeon, Fabienne Saint James;
Loundon, Natalie;
Rouillon, Isabelle;
Garabedian, Eréa‐Nöel;
Denoyelle, Françoise;
Jacquemont, Marie‐Line;
Darcel, Françoise

Publication type:

Article

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 (WT1) pathogenic variant.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 172, doi. 10.1111/cge.13459

By:

Gomes, Nathalia L.;
Silva, Juliana M.;
Silva, Thatiana E.;
Batista, Rafael L.;
Faria Júnior, José A. D.;
Moraes, Daniela;
Costa, Elaine M.F.;
Domenice, Sorahia;
Nishi, Mirian Y.;
Mendonca, Berenice B.;
de Paula, Leila C.P.;
Hemesath, Tatiana P.;
Guaragna‐Filho, Guilherme;
Leite, Júlio C.L.;
Carvalho, Clarissa G.;
Costa, Eduardo C.;
Lerário, Antônio M.

Publication type:

Article

QRICH1 mutations cause a chondrodysplasia with developmental delay.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 160, doi. 10.1111/cge.13457

By:

Lui, Julian C.;
Jee, Youn Hee;
Lee, Audrey;
Yue, Shanna;
Wagner, Jacob;
Baron, Jeffrey;
Donnelly, Deirdre E.;
Vogt, Karen S.

Publication type:

Article

Genetic regulatory pathways of split‐hand/foot malformation.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 132, doi. 10.1111/cge.13434

By:

Kantaputra, Piranit N.;
Carlson, Bruce M.

Publication type:

Article

Families' and health care professionals' attitudes towards Li‐Fraumeni syndrome testing in children: A systematic review.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 140, doi. 10.1111/cge.13442

By:

Warby, Meera;
Tucker, Katherine M.;
Wakefield, Claire E.;
Vetsch, Janine

Publication type:

Article

Issue Information ‐ Editorial Board.

Published in:: Clinical Genetics, 2019, v. 95, n. 1, p. 1, doi. 10.1111/cge.13393
Publication type:: Article

Association between glutathione S‐transferase gene M1 and T1 polymorphisms and chronic obstructive pulmonary disease risk: A meta‐analysis.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 53, doi. 10.1111/cge.13373

By:

Ding, Z.;
Wang, K.;
Li, J.;
Tan, Q.;
Tan, W.;
Guo, G.

Publication type:

Article

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 85, doi. 10.1111/cge.13382

By:

Meester, J.A.N.;
Verstraeten, A.;
Alaerts, M.;
Schepers, D.;
Van Laer, L.;
Loeys, B.L.

Publication type:

Article

Pallister‐Killian syndrome: Review of fetal phenotype.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 79, doi. 10.1111/cge.13381

By:

Thakur, S.;
Gupta, R.;
Tiwari, B.;
Singh, N.;
Saxena, K.K.

Publication type:

Article

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 63, doi. 10.1111/cge.13374

By:

Celmina, M.;
Micule, I.;
Inashkina, I.;
Stavusis, J.;
Pelnena, D.;
Audere, M.;
Kuske, S.;
Pereca, J.;
Strautmanis, J.

Publication type:

Article

Children and young people's understanding of inherited conditions and their attitudes towards genetic testing: A systematic review.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 10, doi. 10.1111/cge.13253

By:

McGill, B.C.;
Wakefield, C.E.;
Vetsch, J.;
Cohn, R.J.;
Kasparian, N.A.;
Barlow‐Stewart, K.;
Patenaude, A.F.;
Young, M.‐A.;
Tucker, K.M.

Publication type:

Article

Clinical, molecular genetics and therapeutic aspects of syndromic obesity.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 23, doi. 10.1111/cge.13367

By:

Geets, E.;
Meuwissen, M.E.C.;
Van Hul, W.

Publication type:

Article

Characteristics of genetic diseases in consanguineous populations in the genomic era: Lessons from Arab communities in North Israel.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 3, doi. 10.1111/cge.13231

By:

Shalev, S.A.

Publication type:

Article