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Partial and complete SPINK1 deficiency cause distinct pancreatic phenotypes.
Published in:
2017
By:
- Sahin-Tóth, Miklós
Publication type:
Other
HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1796, doi. 10.1002/humu.23298
By:
- Imai-Okazaki, Atsuko;
- Kohda, Masakazu;
- Kobayashi, Kaori;
- Hirata, Tomoko;
- Sakata, Yasushi;
- Murayama, Kei;
- Ohtake, Akira;
- Okazaki, Yasushi;
- Nakaya, Akihiro;
- Ott, Jurg
Publication type:
Article
Cover Image, Volume 38, Issue 12.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. i, doi. 10.1002/humu.23363
By:
- Zhang, Yue;
- Zhou, Tiantian;
- Niu, Yayan;
- He, Meiling;
- Wang, Can;
- Liu, Meng;
- Yang, Junhua;
- Zhang, Yonghong;
- Zhou, Jianping;
- Fukuda, Koichi;
- Qin, Jun;
- Dong, Ningzheng;
- Wu, Qingyu
Publication type:
Article
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1786, doi. 10.1002/humu.23340
By:
- Wortmann, Saskia B.;
- Timal, Sharita;
- Venselaar, Hanka;
- Wintjes, Liesbeth T.;
- Kopajtich, Robert;
- Feichtinger, René G.;
- Onnekink, Carla;
- Mühlmeister, Mareike;
- Brandt, Ulrich;
- Smeitink, Jan A.;
- Veltman, Joris A.;
- Sperl, Wolfgang;
- Lefeber, Dirk;
- Pruijn, Ger;
- Stojanovic, Vesna;
- Freisinger, Peter;
- v Spronsen, Francjan;
- Derks, Terry GJ;
- Veenstra-Knol, Hermine E.;
- Mayr, Johannes A
Publication type:
Article
PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1671, doi. 10.1002/humu.23310
By:
- Proskorovski-Ohayon, Regina;
- Kadir, Rotem;
- Michalowski, Analia;
- Flusser, Hagit;
- Perez, Yonatan;
- Hershkovitz, Eli;
- Sivan, Sara;
- Birk, Ohad S.
Publication type:
Article
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1740, doi. 10.1002/humu.23335
By:
- Zhou, Xiao-Long;
- He, Long-Xia;
- Yu, Li-Jia;
- Wang, Yong;
- Wang, Xi-Jin;
- Wang, En-Duo;
- Yang, Tao
Publication type:
Article
A disease-associated mutation in the adhesion GPCR BAI2 ( ADGRB2) increases receptor signaling activity.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1751, doi. 10.1002/humu.23336
By:
- Purcell, Ryan H.;
- Toro, Camilo;
- Gahl, William A.;
- Hall, Randy A.
Publication type:
Article
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1621, doi. 10.1002/humu.23337
By:
- Cardoso, Luís;
- Stevenson, Mark;
- Thakker, Rajesh V.
Publication type:
Article
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1761, doi. 10.1002/humu.23338
By:
- Barone, Virginia;
- Del Re, Valeria;
- Gamberucci, Alessandra;
- Polverino, Valentina;
- Galli, Lucia;
- Rossi, Daniela;
- Costanzi, Elisa;
- Toniolo, Luana;
- Berti, Gianna;
- Malandrini, Alessandro;
- Ricci, Giulia;
- Siciliano, Gabriele;
- Vattemi, Gaetano;
- Tomelleri, Giuliano;
- Pierantozzi, Enrico;
- Spinozzi, Simone;
- Volpi, Nila;
- Fulceri, Rosella;
- Battistutta, Roberto;
- Reggiani, Carlo
Publication type:
Article
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1774, doi. 10.1002/humu.23339
By:
- Chen, Li;
- Jensik, Philip J.;
- Alaimo, Joseph T.;
- Walkiewicz, Magdalena;
- Berger, Seth;
- Roeder, Elizabeth;
- Faqeih, Eissa A.;
- Bernstein, Jonathan A.;
- Smith, Ann C. M.;
- Mullegama, Sureni V.;
- Saffen, David W.;
- Elsea, Sarah H.
Publication type:
Article
Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1723, doi. 10.1002/humu.23320
By:
- Andrade, Kelvin César;
- Mirabello, Lisa;
- Stewart, Douglas R.;
- Karlins, Eric;
- Koster, Roelof;
- Wang, Mingyi;
- Gapstur, Susan M.;
- Gaudet, Mia M.;
- Freedman, Neal D.;
- Landi, Maria Teresa;
- Lemonnier, Nathanaël;
- Hainaut, Pierre;
- Savage, Sharon A.;
- Achatz, Maria Isabel
Publication type:
Article
Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1731, doi. 10.1002/humu.23321
By:
- Ghosh, Somadri;
- Huber, Céline;
- Siour, Quentin;
- Sousa, Sérgio B.;
- Wright, Michael;
- Cormier-Daire, Valérie;
- Erneux, Christophe
Publication type:
Article
Molecular and clinical spectra of FBXL4 deficiency.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1649, doi. 10.1002/humu.23341
By:
- El-Hattab, Ayman W.;
- Dai, Hongzheng;
- Almannai, Mohammed;
- Wang, Julia;
- Faqeih, Eissa A.;
- Al Asmari, Ali;
- Saleh, Mohammed A. M.;
- Elamin, Mohammed A. O.;
- Alfadhel, Majid;
- Alkuraya, Fowzan S.;
- Hashem, Mais;
- Aldosary, Mazhor S.;
- Almass, Rawan;
- Almutairi, Faten B.;
- Alsagob, Maysoon;
- Al-Owain, Mohammed;
- Al-Sharfa, Shirin;
- Al-Hassnan, Zuhair N.;
- Rahbeeni, Zuhair;
- Al-Muhaizea, Mohammed A.
Publication type:
Article
Functional and molecular studies in primary carnitine deficiency.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1684, doi. 10.1002/humu.23315
By:
- Frigeni, Marta;
- Balakrishnan, Bijina;
- Yin, Xue;
- Calderon, Fernanda R.O.;
- Mao, Rong;
- Pasquali, Marzia;
- Longo, Nicola
Publication type:
Article
Identification and functional analysis of CORIN variants in hypertensive patients.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1700, doi. 10.1002/humu.23318
By:
- Zhang, Yue;
- Zhou, Tiantian;
- Niu, Yayan;
- He, Meiling;
- Wang, Can;
- Liu, Meng;
- Yang, Junhua;
- Zhang, Yonghong;
- Zhou, Jianping;
- Fukuda, Koichi;
- Qin, Jun;
- Dong, Ningzheng;
- Wu, Qingyu
Publication type:
Article
Is Li-Fraumeni syndrome really much more common?
Published in:
2017
By:
- Thomas, David M
Publication type:
Other
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1660, doi. 10.1002/humu.23343
By:
- Venet, Théa;
- Masson, Emmanuelle;
- Talbotec, Cécile;
- Billiemaz, Kareen;
- Touraine, Renaud;
- Gay, Claire;
- Destombe, Sylvie;
- Cooper, David N.;
- Patural, Hugues;
- Chen, Jian-Min;
- Férec, Claude
Publication type:
Article
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1666, doi. 10.1002/humu.23344
By:
- Natsuga, Ken;
- Nishie, Wataru;
- Nishimura, Machiko;
- Shinkuma, Satoru;
- Watanabe, Mika;
- Izumi, Kentaro;
- Nakamura, Hideki;
- Hirako, Yoshiaki;
- Shimizu, Hiroshi
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1615, doi. 10.1002/humu.23109
Publication type:
Article
Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1711, doi. 10.1002/humu.23319
By:
- Hillmer, Morten;
- Summerer, Anna;
- Mautner, Victor-Felix;
- Högel, Josef;
- Cooper, David N.;
- Kehrer-Sawatzki, Hildegard
Publication type:
Article

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