Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 1

Results: 11

Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 99, doi. 10.1002/humu.24303

By:

Torraco, Alessandra;
Maroofian, Reza;
Rötig, Agnès;
Bertini, Enrico;
Ghezzi, Daniele;
Carrozzo, Rosalba;
Diodato, Daria

Publication type:

Article

Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 56, doi. 10.1002/humu.24292

By:

Jin, Xiaohua;
Yan, Yousheng;
Zhang, Chuan;
Tai, Ya;
An, Lisha;
Yu, Xinyou;
Zhang, Linlin;
Hao, Shengju;
Cao, Xiaofang;
Yin, Chenghong;
Ma, Xu

Publication type:

Article

Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.

Published in:: Human Mutation, 2022, v. 43, n. 1, p. 97, doi. 10.1002/humu.24301
Publication type:: Article

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 85, doi. 10.1002/humu.24299

By:

Sehested, Astrid;
Meade, Julia;
Scheie, David;
Østrup, Olga;
Bertelsen, Birgitte;
Misiakou, Maria Anna;
Sarosiek, Tomasz;
Kessler, Elena;
Melchior, Linea C.;
Munch‐Petersen, Helga Fibiger;
Pai, Reetesh K.;
Schmuth, Matthias;
Gottschling, Hendrik;
Zschocke, Johannes;
Gallon, Richard;
Wimmer, Katharina

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2022, v. 43, n. 1, p. 1, doi. 10.1002/humu.24223
Publication type:: Article

Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 74, doi. 10.1002/humu.24294

By:

Piotrowski, Arkadiusz;
Koczkowska, Magdalena;
Poplawski, Andrzej B.;
Bartoszewski, Rafał;
Króliczewski, Jarosław;
Mieczkowska, Alina;
Gomes, Alicia;
Crowley, Michael R.;
Crossman, David K.;
Chen, Yunjia;
Lao, Ping;
Serra, Eduard;
Llach, Meritxell C.;
Castellanos, Elisabeth;
Messiaen, Ludwine M.

Publication type:

Article

GGCX variants leading to biallelic deficiency to γ‐carboxylate GRP cause skin laxity in VKCFD1 patients.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 42, doi. 10.1002/humu.24300

By:

Ghosh, Suvoshree;
Kraus, Katrin;
Biswas, Arijit;
Müller, Jens;
Forin, Francesco;
Singer, Heike;
Höning, Klara;
Hornung, Veit;
Watzka, Matthias;
Oldenburg, Johannes;
Czogalla‐Nitsche, Katrin J.

Publication type:

Article

Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 30, doi. 10.1002/humu.24290

By:

Long, Ashlee;
Liu, Hui;
Liu, Jian;
Daniel, Michael;
Bedwell, David M.;
Korf, Bruce;
Kesterson, Robert A.;
Wallis, Deeann

Publication type:

Article

Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 3, doi. 10.1002/humu.24287

By:

Nagai, Koki;
Niihori, Tetsuya;
Okamoto, Nobuhiko;
Kondo, Akane;
Suga, Kenichi;
Ohhira, Tomoko;
Hayabuchi, Yasunobu;
Homma, Yukako;
Nakagawa, Ryuji;
Ifuku, Toshinobu;
Abe, Taiki;
Mizuguchi, Takeshi;
Matsumoto, Naomichi;
Aoki, Yoko

Publication type:

Article

Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 67, doi. 10.1002/humu.24293

By:

Nuovo, Sara;
Baglioni, Valentina;
De Mori, Roberta;
Tardivo, Silvia;
Caputi, Caterina;
Ginevrino, Monia;
Micalizzi, Alessia;
Masuelli, Laura;
Federici, Giulia;
Casella, Antonella;
Lorefice, Elisa;
Anello, Danila;
Tolve, Manuela;
Farini, Donatella;
Bertini, Enrico;
Zanni, Ginevra;
Travaglini, Lorena;
Vasco, Gessica;
Sette, Claudio;
Carducci, Carla

Publication type:

Article

A family study implicates GBE1 in the etiology of autism spectrum disorder.

Published in:

Human Mutation, 2022, v. 43, n. 1, p. 16, doi. 10.1002/humu.24289

By:

Fanjul‐Fernández, Miriam;
Brown, Natasha J.;
Hickey, Peter;
Diakumis, Peter;
Rafehi, Haloom;
Bozaoglu, Kiymet;
Green, Cherie C.;
Rattray, Audrey;
Young, Savannah;
Alhuzaimi, Dana;
Mountford, Hayley S.;
Gillies, Greta;
Lukic, Vesna;
Vick, Tanya;
Finlay, Keri;
Coe, Bradley P.;
Eichler, Evan E.;
Delatycki, Martin B.;
Wilson, Sarah J.;
Bahlo, Melanie

Publication type:

Article