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

Results: 21

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
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
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
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
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
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
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
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
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
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
Issue Information ‐ Editorial Board.
Published in:
Clinical Genetics, 2019, v. 95, n. 1, p. 1, doi. 10.1111/cge.13393
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
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
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
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
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
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