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Toni Mochty: Bardet Biedl syndrome "avant la lettre".
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 536, doi. 10.1111/cge.13647
By:
- de Herder, Wouter
Publication type:
Article
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 457, doi. 10.1111/cge.13697
By:
- Mariano, Cibelle;
- Alves, Ana Catarina;
- Medeiros, Ana Margarida;
- Chora, Joana Rita;
- Antunes, Marília;
- Futema, Marta;
- Humphries, Steve E.;
- Bourbon, Mafalda
Publication type:
Article
Front Cover.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. i, doi. 10.1111/cge.13724
By:
- Alkuraya, Hisham;
- Patel, Nisha;
- Ibrahim, Niema;
- Al Ghamdi, Bandar;
- Alsulaiman, Sulaiman M.;
- Nowilaty, Sawsan R.;
- Abboud, Emad;
- Alturki, Ramadan;
- Alkharashi, Abdullah;
- Eyaid, Wafaa;
- Almasseri, Zainab;
- Alzaidan, Hamad;
- Alotaibi, Mohammed D.;
- Abu El‐Asrar, Ahmed M.;
- Alamro, Bandar;
- Helaby, Rana;
- Elshaer, Amani;
- Almontashiri, Naif A.M.;
- Al‐Hussaini, Abdulrahman A.;
- Alkuraya, Fowzan S.
Publication type:
Article
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 477, doi. 10.1111/cge.13696
By:
- Desprairies, Camille;
- Valence, Stéphanie;
- Maurey, Hélène;
- Helal, Suzette I.;
- Weckhuysen, Sarah;
- Soliman, Hala;
- Mefford, Heather C.;
- Spentchian, Myrtille;
- Héron, Delphine;
- Leguern, Eric;
- Nava, Caroline;
- Bouilleret, Viviane;
- Moretti, Raffaella;
- Mignot, Cyril
Publication type:
Article
Uptake of polygenic risk information among women at increased risk of breast cancer.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 492, doi. 10.1111/cge.13687
By:
- Yanes, Tatiane;
- Meiser, Bettina;
- Kaur, Rajneesh;
- Scheepers‐Joynt, Maatje;
- McInerny, Simone;
- Taylor, Shelby;
- Barlow‐Stewart, Kristine;
- Antill, Yoland;
- Salmon, Lucinda;
- Smyth, Courtney;
- Young, Mary‐Anne;
- James, Paul A.
Publication type:
Article
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 467, doi. 10.1111/cge.13689
By:
- Tenorio, Jair;
- Nevado, Julián;
- González‐Meneses, Antonio;
- Arias, Pedro;
- Dapía, Irene;
- Venegas‐Vega, Carlos A.;
- Calvente, María;
- Hernández, Alicia;
- Landera, Leandro;
- Ramos, Sergio;
- Cigudosa, Juan Cruz;
- Pérez‐Jurado, Luis A.;
- Lapunzina, Pablo
Publication type:
Article
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 447, doi. 10.1111/cge.13676
By:
- Alkuraya, Hisham;
- Patel, Nisha;
- Ibrahim, Niema;
- Al Ghamdi, Bandar;
- Alsulaiman, Sulaiman M.;
- Nowilaty, Sawsan R.;
- Abboud, Emad;
- Alturki, Ramadan;
- Alkharashi, Abdullah;
- Eyaid, Wafaa;
- Almasseri, Zainab;
- Alzaidan, Hamad;
- Alotaibi, Mohammed D.;
- Abu El‐Asrar, Ahmed M.;
- Alamro, Bandar;
- Helaby, Rana;
- Elshaer, Amani;
- Almontashiri, Naif A.M.;
- Al‐Hussaini, Abdulrahman A.;
- Alkuraya, Fowzan S.
Publication type:
Article
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 383, doi. 10.1111/cge.13680
By:
- Zhang, Boyan;
- Zhang, Yue;
- Wu, Naichao;
- Li, Jianing;
- Liu, He;
- Wang, Jincheng
Publication type:
Article
Psychological factors that determine people's willingness‐to‐share genetic data for research.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 483, doi. 10.1111/cge.13686
By:
- Bearth, Angela;
- Siegrist, Michael
Publication type:
Article
COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 396, doi. 10.1111/cge.13683
By:
- Morlino, Silvia;
- Micale, Lucia;
- Ritelli, Marco;
- Rohrbach, Marianne;
- Zoppi, Nicoletta;
- Vandersteen, Anthony;
- Mackay, Sara;
- Agolini, Emanuele;
- Cocciadiferro, Dario;
- Sasaki, Erina;
- Madeo, Annalisa;
- Ferraris, Alessandro;
- Reardon, Willie;
- Di Rocco, Maja;
- Novelli, Antonio;
- Grammatico, Paola;
- Malfait, Fransiska;
- Mazza, Tommaso;
- Hakim, Alan;
- Giunta, Cecilia
Publication type:
Article
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 437, doi. 10.1111/cge.13675
By:
- Parente, Daniel J.;
- Morris, Stephanie M.;
- McKinstry, Robert C.;
- Brandt, Tracy;
- Gabau, Elisabeth;
- Ruiz, Anna;
- Shinawi, Marwan
Publication type:
Article
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 426, doi. 10.1111/cge.13673
By:
- Bauwens, Miriam;
- Storch, Stephan;
- Weisschuh, Nicole;
- Ceuterick‐de Groote, Chantal;
- De Rycke, Riet;
- Guillemyn, Brecht;
- De Jaegere, Sarah;
- Coppieters, Frauke;
- Van Coster, Rudy;
- Leroy, Bart P.;
- De Baere, Elfride
Publication type:
Article
"RE: Lin JL, et al. 'Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.' Clin Genet. 2015;88(3):255‐260".
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 538, doi. 10.1111/cge.13671
By:
- Lindsley, Andrew W.
Publication type:
Article
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 521, doi. 10.1111/cge.13668
By:
- Stregapede, Fabrizia;
- Travaglini, Lorena;
- Rebelo, Adriana P.;
- Cintra, Vivian Pedigone;
- Bellacchio, Emanuele;
- Bosco, Luca;
- Alfieri, Paolo;
- Pro, Stefano;
- Zuchner, Stephan;
- Bertini, Enrico;
- Nicita, Francesco
Publication type:
Article
Clinical and genetic findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 532, doi. 10.1111/cge.13669
By:
- Guan, Rong‐Yuan;
- Wu, Jian‐Jun;
- Ding, Zheng‐Tong;
- Wang, Jian;
- Sun, Yi‐Min
Publication type:
Article
X‐linked intellectual disability: Phenotypic expression in carrier females.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 418, doi. 10.1111/cge.13667
By:
- Ziats, Catherine A.;
- Schwartz, Charles E.;
- Gecz, Jozef;
- Shaw, Marie;
- Field, Michael J.;
- Stevenson, Roger E.;
- Neri, Giovanni
Publication type:
Article
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 516, doi. 10.1111/cge.13666
By:
- Richmond, Christopher M.;
- Leventer, Richard;
- Ryan, Monique M.;
- Delatycki, Martin B.
Publication type:
Article
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 407, doi. 10.1111/cge.13663
By:
- Ye, Qing;
- Shen, Qian;
- Rao, Jia;
- Zhang, Aihua;
- Zheng, Bixia;
- Liu, Xiaorong;
- Shen, Ying;
- Chen, Zhi;
- Wu, Yubing;
- Hou, Ling;
- Jian, Shan;
- Wei, Min;
- Ma, Mingsheng;
- Sun, Shuzhen;
- Li, Qian;
- Dang, Xiqiang;
- Wang, Ying;
- Xu, Hong;
- Mao, Jianhua
Publication type:
Article
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 509, doi. 10.1111/cge.13661
By:
- Fassad, Mahmoud R.;
- Shoman, Walaa I.;
- Morsy, Heba;
- Patel, Mitali P.;
- Radwan, Nesrine;
- Jenkins, Lucy;
- Cullup, Thomas;
- Fouda, Eman;
- Mitchison, Hannah M.;
- Fasseeh, Nader
Publication type:
Article
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 502, doi. 10.1111/cge.13660
By:
- Reis, Linda M.;
- Houssin, Nathalie S.;
- Zamora, Carlos;
- Abdul‐Rahman, Omar;
- Kalish, Jennifer M.;
- Zackai, Elaine H.;
- Plageman, Timothy F.;
- Semina, Elena V.
Publication type:
Article
Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 529, doi. 10.1111/cge.13659
By:
- Schauren, Juliana S.;
- Torres, Ana C.M.B.G.;
- de Almeida, Rodrigo C.;
- Santos, Pablo S.C.;
- Mulinari‐Brenner, Fabiane;
- Lima, Luiz H.;
- Zago Filho, Luiz A.;
- Shiokawa, Naoye;
- Bicalho, Maria da Graça;
- Sato, Mario T.
Publication type:
Article
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 527, doi. 10.1111/cge.13655
By:
- Bataille, Pauline;
- Michaud, Vincent;
- Robert, Matthieu P.;
- Bekel, Lilia;
- Leclerc‐Mercier, Stéphanie;
- Harroche, Annie;
- Célérier, Charlotte;
- Lasseaux, Eulalie;
- Borgel, Delphine;
- Bremond‐Gignac, Dominique;
- Bodemer, Christine;
- Arveiler, Benoit;
- Hadj‐Rabia, Smaïl
Publication type:
Article
Issue Information – Editorial Board.
Published in:
Clinical Genetics, 2020, v. 97, n. 3, p. 381, doi. 10.1111/cge.13569
Publication type:
Article

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