Works matching IS 00099163 AND DT 2021 AND VI 99 AND IP 6

Results: 17

Featured Cover.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 1, doi. 10.1111/cge.13971
By:
- Rezaei, Maryam;
- Suresh, Beena;
- Bereke, Eric;
- Hadipour, Zahra;
- Aguinaga, Monic;
- Qian, Jianhua;
- Bagga, Rashmi;
- Fardaei, Majid;
- Hemida, Reda;
- Jagadeesh, Sujatha;
- Majewski, Jacek;
- Slim, Rima
Publication type:
Article
Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 842, doi. 10.1111/cge.13957
By:
- Agolini, Emanuele;
- Botta, Elena;
- Lodi, Mariachiara;
- Digilio, Maria Cristina;
- Rinelli, Martina;
- Bellacchio, Emanuele;
- Alesi, Viola;
- Nardo, Tiziana;
- Zambruno, Giovanna;
- Orioli, Donata;
- Alessi, Iside;
- Boccuto, Luigi;
- Rossi, Sabrina;
- Carai, Andrea;
- Colafati, Giovanna Stefania;
- Cacchione, Antonella;
- Dallapiccola, Bruno;
- Novelli, Antonio;
- Mastronuzzi, Angela
Publication type:
Article
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 823, doi. 10.1111/cge.13941
By:
- Rezaei, Maryam;
- Suresh, Beena;
- Bereke, Eric;
- Hadipour, Zahra;
- Aguinaga, Monica;
- Qian, Jianhua;
- Bagga, Rashmi;
- Fardaei, Majid;
- Hemida, Reda;
- Jagadeesh, Sujatha;
- Majewski, Jacek;
- Slim, Rima
Publication type:
Article
Keratoconus in a patient with B3GALT6‐related disorder.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 849, doi. 10.1111/cge.13940
By:
- Descartes, Maria;
- Melenevsky, Yulia V.;
- Rudy, Natasha;
- Smith, Kirstin;
- Callaway, Kaitlin;
- Parker, Jack S.
Publication type:
Article
Health‐related quality of life in adults with osteogenesis imperfecta.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 772, doi. 10.1111/cge.13939
By:
- Murali, Chaya N.;
- Slater, Brady;
- Musaad, Salma;
- Cuthbertson, David;
- Nguyen, Dianne;
- Turner, Alicia;
- Azamian, Mahshid;
- Tosi, Laura;
- Rauch, Frank;
- Sutton, V. Reid;
- Lee, Brendan;
- Nagamani, Sandesh C. S.
Publication type:
Article
Forty‐seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 818, doi. 10.1111/cge.13938
By:
- Zlotogora, Joël
Publication type:
Article
Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 853, doi. 10.1111/cge.13953
By:
- Thakur, Seema;
- Gupta, Rachna;
- Bansal, Deepak;
- Singh, Chanchal;
- Agarwal, Divya;
- Saxena, Kamal Kant
Publication type:
Article
Clinical and molecular delineation of spondylocostal dysostosis type 3.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 851, doi. 10.1111/cge.13952
By:
- Schuhmann, Sarah;
- Koller, Heiko;
- Sticht, Heinrich;
- Kraus, Cornelia;
- Krumbiegel, Mandy;
- Uebe, Steffen;
- Ekici, Arif B.;
- Reis, André;
- Thiel, Christian T.
Publication type:
Article
Heterozygous NOTCH1 deletion associated with variable congenital heart defects.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 836, doi. 10.1111/cge.13948
By:
- Roifman, Maian;
- Chung, Brian Hon Yin;
- Reid, Diane Myles;
- Teitelbaum, Ronni;
- Martin, Nicole;
- Nield, Lynne E.;
- Thompson, Megan;
- Shannon, Patrick;
- Chitayat, David
Publication type:
Article
Mapping leprosy‐associated coding variants of interleukin genes by targeted sequencing.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 802, doi. 10.1111/cge.13945
By:
- Zhang, Deng‐Feng;
- Li, Hui‐Long;
- Zheng, Quanzhen;
- Bi, Rui;
- Xu, Min;
- Wang, Dong;
- Zhu, Guo‐Ping;
- Li, Yu‐Ye;
- Yao, Yong‐Gang
Publication type:
Article
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 829, doi. 10.1111/cge.13944
By:
- Fusco, Carmela;
- Nardella, Grazia;
- Petracca, Antonio;
- Ronchi, Dario;
- Paciello, Nicola;
- Di Giacomo, Marilena;
- Gambardella, Stefano;
- Lanfranconi, Silvia;
- Zampatti, Stefania;
- D'Agruma, Leonardo;
- Micale, Lucia;
- Castori, Marco
Publication type:
Article
FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs!
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 789, doi. 10.1111/cge.13943
By:
- Schuch, Luise A.;
- Forstner, Maria;
- Rapp, Christina K.;
- Li, Yang;
- Smith, Desiree E. C.;
- Mendes, Marisa I.;
- Delhommel, Florent;
- Sattler, Michael;
- Emiralioğlu, Nagehan;
- Taskiran, Ekim Z.;
- Orhan, Diclehan;
- Kiper, Nural;
- Rohlfs, Meino;
- Jeske, Tim;
- Hastreiter, Maximilian;
- Gerstlauer, Michael;
- Torrent‐Vernetta, Alba;
- Moreno‐Galdó, Antonio;
- Kammer, Birgit;
- Brasch, Frank
Publication type:
Article
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 780, doi. 10.1111/cge.13942
By:
- Atallah, Isis;
- Quinodoz, Mathieu;
- Campos‐Xavier, Belinda;
- Peter, Virginie G.;
- Fouriki, Athina;
- Bonvin, Christophe;
- Bottani, Armand;
- Kumps, Camille;
- Angelini, Federica;
- Bellutti Enders, Felicitas;
- Christen‐Zaech, Stéphanie;
- Rizzi, Mattia;
- Renella, Raffaele;
- Beck‐Popovic, Maja;
- Poloni, Claudia;
- Frossard, Valérie;
- Blouin, Jean‐Louis;
- Rivolta, Carlo;
- Riccio, Orbicia;
- Candotti, Fabio
Publication type:
Article
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 812, doi. 10.1111/cge.13937
By:
- Arroyo Carrera, Ignacio;
- Fernández‐Burriel, Miguel;
- Lapunzina, Pablo;
- Tenorio, Jair Antonio;
- García Navas, Verónica Deyanira;
- Márquez Isidro, Elena
Publication type:
Article
Fragile X premutation and associated health conditions: A review.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 751, doi. 10.1111/cge.13924
By:
- Tassanakijpanich, Nattaporn;
- Hagerman, Randi J.;
- Worachotekamjorn, Juthamas
Publication type:
Article
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 761, doi. 10.1111/cge.13936
By:
- Delarosa‐Rodríguez, Rocío;
- Santotoribio, José D.;
- Paula, Hernández‐Arévalo;
- González‐Meneses, Antonio;
- García‐Morillo, Salvador;
- Jiménez‐Arriscado, Pilar;
- Guerrero, Juan M.;
- Macher, Hada C.
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2021, v. 99, n. 6, p. 749, doi. 10.1111/cge.13782
Publication type:
Article