Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 6

Results: 18

Bi‐allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 731, doi. 10.1111/cge.14067
By:
- Ma, Cong;
- Wu, Huan;
- Zhu, Damin;
- Wang, Ying;
- Shen, Qunshan;
- Cheng, Huiru;
- Zhang, Junqiang;
- Geng, Hao;
- Liu, Yiyuan;
- He, Xiaojin;
- Tao, Fangbiao;
- Cao, Yunxia;
- Xu, Xiaofeng
Publication type:
Article
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 722, doi. 10.1111/cge.14066
By:
- Saida, Ken;
- Tamaoki, Junya;
- Sasaki, Masayuki;
- Haniffa, Muzhirah;
- Koshimizu, Eriko;
- Sengoku, Toru;
- Maeda, Hiroki;
- Kikuchi, Masahiro;
- Yokoyama, Haruna;
- Sakamoto, Masamune;
- Iwama, Kazuhiro;
- Sekiguchi, Futoshi;
- Hamanaka, Kohei;
- Fujita, Atsushi;
- Mizuguchi, Takeshi;
- Ogata, Kazuhiro;
- Miyake, Noriko;
- Miyatake, Satoko;
- Kobayashi, Makoto;
- Matsumoto, Naomichi
Publication type:
Article
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 713, doi. 10.1111/cge.14065
By:
- Sun, Feng;
- Zhang, Rui‐Jia;
- Cheng, Feng;
- Fang, Ya;
- Yang, Rui‐Meng;
- Ye, Xiao‐Ping;
- Han, Bing;
- Zhao, Shuang‐Xia;
- Dong, Mei;
- Song, Huai‐Dong
Publication type:
Article
Novel bi‐allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 777, doi. 10.1111/cge.14056
By:
- Yu, Hao;
- Wei, Qiao;
- Luo, Wen‐Jiao;
- Wu, Zhi‐Ying
Publication type:
Article
The Thai reference exome (T‐REx) variant database.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 703, doi. 10.1111/cge.14060
By:
- Shotelersuk, Vorasuk;
- Wichadakul, Duangdao;
- Ngamphiw, Chumpol;
- Srichomthong, Chalurmpon;
- Phokaew, Chureerat;
- Wilantho, Alisa;
- Pakchuen, Sujiraporn;
- Nakhonsri, Vorthunju;
- Shaw, Philip James;
- Wasitthankasem, Rujipat;
- Piriyapongsa, Jittima;
- Wangkumhang, Pongsakorn;
- Assawapitaksakul, Adjima;
- Chetruengchai, Wanna;
- Lapphra, Keswadee;
- Khuninthong, Athiphat;
- Makarawate, Pattarapong;
- Suphapeetiporn, Kanya;
- Mahasirimongkol, Surakameth;
- Satproedprai, Nusara
Publication type:
Article
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 758, doi. 10.1111/cge.14059
By:
- Sczakiel, Henrike Lisa;
- Hülsemann, Wiebke;
- Holtgrewe, Manuel;
- Abad‐Perez, Angela Teresa;
- Elsner, Jonas;
- Schwartzmann, Sarina;
- Horn, Denise;
- Spielmann, Malte;
- Mundlos, Stefan;
- Mensah, Martin Atta
Publication type:
Article
Diagnostic yield of genetic testing in 324 infants with hypotonia.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 752, doi. 10.1111/cge.14057
By:
- Sharma, Sonal;
- Repnikova, Elena;
- Noel‐MacDonnell, Janelle R.;
- LePichon, Jean‐Baptiste
Publication type:
Article
A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 773, doi. 10.1111/cge.14048
By:
- Yuan, Zhuang‐Zhuang;
- Wang, Chen‐Yu;
- Jin, Jie‐Yuan;
- Sheng, Yue;
- Zhao, Mei‐Fang;
- Fan, Liang‐Liang;
- Zhang, Ai‐Qian
Publication type:
Article
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 766, doi. 10.1111/cge.14061
By:
- van der Ven, Amelie T.;
- Johannsen, Jessika;
- Kortüm, Fanny;
- Wagner, Matias;
- Tsiakas, Konstantinos;
- Bierhals, Tatjana;
- Lessel, Davor;
- Herget, Theresia;
- Kloth, Katja;
- Lisfeld, Jasmin;
- Scholz, Tasja;
- Obi, Nadia;
- Wortmann, Saskia;
- Prokisch, Holger;
- Kubisch, Christian;
- Denecke, Jonas;
- Santer, René;
- Hempel, Maja
Publication type:
Article
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 692, doi. 10.1111/cge.14054
By:
- Reumers, Stacha F. I.;
- Erasmus, Corrie E.;
- Bouman, Karlijn;
- Pennings, Maartje;
- Schouten, Meyke;
- Kusters, Benno;
- Duijkers, Floor A. M.;
- van der Kooi, Anneke;
- Jaeger, Bregje;
- Verschuuren‐Bemelmans, Corien C.;
- Faber, Catharina G.;
- van Engelen, Baziel G.;
- Kamsteeg, Erik‐Jan;
- Jungbluth, Heinz;
- Voermans, Nicol C.
Publication type:
Article
Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 748, doi. 10.1111/cge.14053
By:
- Kotecha, Udhaya;
- Mistri, Mehul;
- Shah, Nidhi;
- Shah, Parth S.;
- Gupta, Vandana A.
Publication type:
Article
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 775, doi. 10.1111/cge.14052
By:
- Nolan, Daniel K.;
- Chaudhari, Bimal;
- Franklin, Samuel J.;
- Wijeratne, Saranga;
- Pfau, Ruthann;
- Mihalic Mosher, Theresa;
- Crist, Erin;
- McBride, Kim L.;
- White, Peter;
- Wilson, Richard K.;
- Hickey, Scott E.;
- Koboldt, Daniel C.
Publication type:
Article
Molecular autopsy by proxy in preconception counseling.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 678, doi. 10.1111/cge.14049
By:
- Ali Alghamdi, Malak;
- Alrasheedi, Ameinah;
- Alghamdi, Esra;
- Adly, Nouran;
- AlAali, Wajeih Y.;
- Alhashem, Amal;
- Alshahrani, Abdulaziz;
- Shamseldin, Hanan;
- Alkuraya, Fowzan S.;
- Alfadhel, Majid
Publication type:
Article
Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 743, doi. 10.1111/cge.14055
By:
- Damásio, Joana;
- Santos, Mariana;
- Samões, Raquel;
- Araújo, Maria;
- Macedo, Mafalda;
- Sardoeira, Ana;
- Cavaco, Sara;
- Freitas, Joel;
- Barros, José;
- Oliveira, Jorge;
- Sequeiros, Jorge
Publication type:
Article
A CELSR1 variant in a patient with pulmonary arterial hypertension.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 771, doi. 10.1111/cge.14046
By:
- Eyries, Mélanie;
- Girerd, Barbara;
- Savale, Laurent;
- Soubrier, Florent;
- Humbert, Marc;
- Montani, David
Publication type:
Article
Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step‐up.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 659, doi. 10.1111/cge.14019
By:
- Mahmood, Arif;
- Shah, Abid Ali;
- Umair, Muhammad;
- Wu, Yiming;
- Khan, Amjad
Publication type:
Article
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 647, doi. 10.1111/cge.14010
By:
- Klapwijk, Jasmijn E.;
- Srebniak, Malgorzata I.;
- Go, Attie T. J. I.;
- Govaerts, Lutgarde C. P.;
- Lewis, Celine;
- Hammond, Jennifer;
- Hill, Melissa;
- Lou, Stina;
- Vogel, Ida;
- Ormond, Kelly E.;
- Diderich, Karin E. M.;
- Brüggenwirth, Hennie T.;
- Riedijk, Sam R.
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 645, doi. 10.1111/cge.13788
Publication type:
Article