Works matching IS 03406717 AND DT 2020 AND VI 139 AND IP 11

Results: 10

Identification of novel genetic variants associated with short stature in a Baka Pygmies population.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1471, doi. 10.1007/s00439-020-02191-x
By:
- Zoccolillo, Matteo;
- Moia, Claudia;
- Comincini, Sergio;
- Cittaro, Davide;
- Lazarevic, Dejan;
- Pisani, Karen A.;
- Wit, Jan M.;
- Bozzola, Mauro
Publication type:
Article
Rare variant association testing in the non-coding genome.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1345, doi. 10.1007/s00439-020-02190-y
By:
- Bocher, Ozvan;
- Génin, Emmanuelle
Publication type:
Article
DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1455, doi. 10.1007/s00439-020-02189-5
By:
- Elzaiat, Maëva;
- Flatters, Delphine;
- Sierra-Díaz, Diana Carolina;
- Legois, Berangère;
- Laissue, Paul;
- Veitia, Reiner A.
Publication type:
Article
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1443, doi. 10.1007/s00439-020-02188-6
By:
- Ganapathi, Mythily;
- Argyriou, Loukas;
- Martínez-Azorín, Francisco;
- Morlot, Susanne;
- Yigit, Gökhan;
- Lee, Teresa M.;
- Auber, Bernd;
- von Gise, Alexander;
- Petrey, Donald S.;
- Thiele, Holger;
- Cyganek, Lukas;
- Sabater-Molina, María;
- Ahimaz, Priyanka;
- Cabezas-Herrera, Juan;
- Sorlí-García, Moisés;
- Zibat, Arne;
- Siegelin, Markus D.;
- Burfeind, Peter;
- Buchovecky, Christie M.;
- Hasenfuss, Gerd
Publication type:
Article
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
By:
- Palombo, Flavia;
- Graziano, Claudio;
- Al Wardy, Nadia;
- Nouri, Nayereh;
- Marconi, Caterina;
- Magini, Pamela;
- Severi, Giulia;
- La Morgia, Chiara;
- Cantalupo, Gaetano;
- Cordelli, Duccio Maria;
- Gangarossa, Simone;
- Al Kindi, Mohammed Nasser;
- Al Khabouri, Mazin;
- Salehi, Mansoor;
- Giorgio, Elisa;
- Brusco, Alfredo;
- Pisani, Francesco;
- Romeo, Giovanni;
- Carelli, Valerio;
- Pippucci, Tommaso
Publication type:
Article
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1417, doi. 10.1007/s00439-020-02186-8
By:
- Kato, Takema;
- Inagaki, Hidehito;
- Miyai, Syunsuke;
- Suzuki, Fumihiko;
- Naru, Yuki;
- Shinkai, Yasuko;
- Kato, Asuka;
- Kanyama, Kazuo;
- Mizuno, Seiji;
- Muramatsu, Yukako;
- Yamamoto, Toshiyuki;
- Shinya, Mitsuhisa;
- Tazaki, Yukiko;
- Hiwatashi, Sayuri;
- Ikeda, Toshiro;
- Ozaki, Mamoru;
- Kurahashi, Hiroki
Publication type:
Article
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1391, doi. 10.1007/s00439-020-02182-y
By:
- Zhou, Gao-Hui;
- Ma, Yue;
- Li, Meng-Lan;
- Zhou, Xin-Yi;
- Mou, Hao;
- Jin, Zi-Bing
Publication type:
Article
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1381, doi. 10.1007/s00439-020-02178-8
By:
- Tran Mau-Them, Frederic;
- Moutton, Sebastien;
- Racine, Caroline;
- Vitobello, Antonio;
- Bruel, Ange-Line;
- Nambot, Sophie;
- Kushner, Steven A.;
- de Vrij, Femke M. S.;
- Lehalle, Daphné;
- Jean-Marçais, Nolwenn;
- Lecoquierre, François;
- Delanne, Julian;
- Thevenon, Julien;
- Poe, Charlotte;
- Jouan, Thibaut;
- Chevarin, Martin;
- Geneviève, David;
- Willems, Marjolaine;
- Coubes, Christine;
- Houcinat, Nada
Publication type:
Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1363, doi. 10.1007/s00439-020-02175-x
By:
- Ufartes, Roser;
- Berger, Hanna;
- Till, Katharina;
- Salinas, Gabriela;
- Sturm, Marc;
- Altmüller, Janine;
- Nürnberg, Peter;
- Thiele, Holger;
- Funke, Rudolf;
- Apeshiotis, Neophytos;
- Langen, Hendrik;
- Wollnik, Bernd;
- Borchers, Annette;
- Pauli, Silke
Publication type:
Article
Low-pass genome sequencing: a validated method in clinical cytogenetics.
Published in:
Human Genetics, 2020, v. 139, n. 11, p. 1403, doi. 10.1007/s00439-020-02185-9
By:
- Chau, Matthew Hoi Kin;
- Wang, Huilin;
- Lai, Yunli;
- Zhang, Yanyan;
- Xu, Fuben;
- Tang, Yanqing;
- Wang, Yanfang;
- Chen, Zihan;
- Leung, Tak Yeung;
- Chung, Jacqueline Pui Wah;
- Kwok, Yvonne K.;
- Chong, Shuk Ching;
- Choy, Kwong Wai;
- Zhu, Yuanfang;
- Xiong, Likuan;
- Wei, Weihong;
- Dong, Zirui
Publication type:
Article