Works matching IS 00099163 AND DT 2022 AND VI 102 AND IP 4

Results: 14

PSMC1 variant causes a novel neurological syndrome.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 324, doi. 10.1111/cge.14195
By:
- Aharoni, Sarit;
- Proskorovski‐Ohayon, Regina;
- Krishnan, Ramesh Kumar;
- Yogev, Yuval;
- Wormser, Ohad;
- Hadar, Noam;
- Bakhrat, Anna;
- Alshafee, Ismael;
- Gombosh, Maya;
- Agam, Nadav;
- Gradstein, Libe;
- Shorer, Zamir;
- Zarivach, Raz;
- Eskin‐Schwartz, Marina;
- Abdu, Uri;
- Birk, Ohad S.
Publication type:
Article
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 314, doi. 10.1111/cge.14193
By:
- Carli, Diana;
- Operti, Matteo;
- Russo, Silvia;
- Cocchi, Guido;
- Milani, Donatella;
- Leoni, Chiara;
- Prada, Elisabetta;
- Melis, Daniela;
- Falco, Mariateresa;
- Spina, Jennifer;
- Uliana, Vera;
- Sara, Osimani;
- Sirchia, Fabio;
- Tarani, Luigi;
- Macchiaiolo, Marina;
- Cerrato, Flavia;
- Sparago, Angela;
- Pignata, Laura;
- Tannorella, Pierpaola;
- Cardaropoli, Simona
Publication type:
Article
A novel splice site variant in the POPDC3 causes autosomal recessive limb‐girdle muscular dystrophy type 26.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 345, doi. 10.1111/cge.14192
By:
- Zhang, Lin;
- Li, Wenwu;
- Weng, Yuting;
- Lin, Keqin;
- Huang, Kai;
- Ma, Shaohui;
- Chu, Jiayou;
- Yang, Zhaoqing;
- Zhang, Xiaochao;
- Sun, Hao
Publication type:
Article
Evolutionary origin of pathogenic GJB2 alleles in China.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 305, doi. 10.1111/cge.14191
By:
- Jiang, Yi;
- Huang, Shasha;
- Zhang, Yi;
- Fang, Nan;
- Liu, Qian;
- Liu, Yunchao;
- Bai, Ling;
- Han, Dongyi;
- Dai, Pu
Publication type:
Article
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 296, doi. 10.1111/cge.14190
By:
- Durand, Benjamin;
- Schaefer, Elise;
- Burger, Pauline;
- Baer, Sarah;
- Schroder, Carmen;
- Mandel, Jean‐Louis;
- Piton, Amélie;
- Coutelle, Romain
Publication type:
Article
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 333, doi. 10.1111/cge.14183
By:
- Kantaputra, Piranit Nik;
- Guven, Yeliz;
- Tripuwabhrut, Kanich;
- Adisornkanj, Ploy;
- Hatsadaloi, Athiwat;
- Kaewgahya, Massupa;
- Olsen, Bjorn;
- Ngamphiw, Chumpol;
- Jatooratthawichot, Peeranat;
- Tongsima, Sissades;
- Ketudat Cairns, James R.
Publication type:
Article
Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 262, doi. 10.1111/cge.14188
By:
- Powel, Jennifer E.;
- Sham, Catherine E.;
- Spiliopoulos, Michail;
- Ferreira, Carlos R.;
- Rosenthal, Emily;
- Sinkovskaya, Elena S.;
- Brown, Shannon;
- Jelin, Angie C.;
- Al‐Kouatly, Huda B.
Publication type:
Article
A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 355, doi. 10.1111/cge.14186
By:
- Pi, Shanyu;
- Mao, Xiao;
- Long, Hongyu;
- Wang, Hua
Publication type:
Article
Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 253, doi. 10.1111/cge.14185
By:
- Heidemann, Britt E.;
- Koopal, Charlotte;
- Baass, Alexis;
- Defesche, Joep C.;
- Zuurbier, Linda;
- Mulder, Monique T.;
- Roeters van Lennep, Jeanine E.;
- Riksen, Niels P.;
- Boot, Christopher;
- Marais, A. David;
- Visseren, Frank L. J.
Publication type:
Article
A new SMOC2 mutation within selective tooth agenesis, malformed teeth and dentin dysplasia.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 352, doi. 10.1111/cge.14184
By:
- Ruan, Wenyan;
- Duan, Xiaohong
Publication type:
Article
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 339, doi. 10.1111/cge.14189
By:
- Vela‐Sebastián, Ana;
- López‐Gallardo, Ester;
- Emperador, Sonia;
- Hernández‐Ainsa, Carmen;
- Pacheu‐Grau, David;
- Blanco, Ignacio;
- Ros, Andrea;
- Pascual‐Benito, Ester;
- Rabaneda‐Lombarte, Neus;
- Presas‐Rodríguez, Silvia;
- García‐Robles, Pilar;
- Montoya, Julio;
- Ruiz‐Pesini, Eduardo
Publication type:
Article
Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 350, doi. 10.1111/cge.14182
By:
- Leeuwen, Lisette;
- Lubout, Charlotte M. A.;
- Nijenhuis, Hessel P.;
- Meiners, Linda C.;
- Vos, Yvonne J.;
- Herkert, Johanna C.
Publication type:
Article
Clinical and genetic characterization of CACNA1A‐related disease.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 288, doi. 10.1111/cge.14180
By:
- Lipman, Amy R.;
- Fan, Xiao;
- Shen, Yufeng;
- Chung, Wendy K.
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 252, doi. 10.1111/cge.13990
Publication type:
Article