Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 2

Results: 12

Genotype and phenotype variability in Sjögren‐Larsson syndrome.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 177, doi. 10.1002/humu.23679

By:

Weustenfeld, Maximilian;
Eidelpes, Reiner;
Schmuth, Matthias;
Rizzo, William B.;
Zschocke, Johannes;
Keller, Markus A.

Publication type:

Article

The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 131, doi. 10.1002/humu.23677

By:

McLachlan, Fiona;
Sires, Anna Martinez;
Abbott, Catherine M.

Publication type:

Article

NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 207, doi. 10.1002/humu.23672

By:

Knarston, Ingrid M.;
Robevska, Gorjana;
den Bergen, Jocelyn A;
Eggers, Stefanie;
Croft, Brittany;
Yates, Jason;
Hersmus, Remko;
Looijenga, Leendert H. J.;
Cameron, Fergus J.;
Monhike, Klaus;
Ayers, Katie L.;
Sinclair, Andrew H.

Publication type:

Article

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 162, doi. 10.1002/humu.23689

By:

Faridi, Rabia;
Tona, Risa;
Brofferio, Alessandra;
Hoa, Michael;
Olszewski, Rafal;
Schrauwen, Isabelle;
Assir, Muhammad Z.K.;
Bandesha, Akhtar A.;
Khan, Asma A.;
Rehman, Atteeq U.;
Brewer, Carmen;
Ahmed, Wasim;
Leal, Suzanne M.;
Riazuddin, Sheikh;
Boyden, Steven E.;
Friedman, Thomas B.

Publication type:

Article

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 142, doi. 10.1002/humu.23688

By:

Pathak, Sagar J.;
Mueller, James L.;
Okamoto, Kevin;
Das, Barun;
Hertecant, Jozef;
Greenhalgh, Lynn;
Cole, Trevor;
Pinsk, Vered;
Yerushalmi, Baruch;
Gurkan, Odul E.;
Yourshaw, Michael;
Hernandez, Erick;
Oesterreicher, Sandy;
Naik, Sandhia;
Sanderson, Ian R.;
Axelsson, Irene;
Agardh, Daniel;
Boland, C. Richard;
Martin, Martin G.;
Putnam, Christopher D.

Publication type:

Article

A novel autosomal recessive GJB2‐associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 217, doi. 10.1002/humu.23686

By:

Youssefian, Leila;
Vahidnezhad, Hassan;
Saeidian, Amir Hossein;
Mahmoudi, Hamidreza;
Karamzadeh, Razieh;
Kariminejad, Ariana;
Huang, Jianhe;
Li, Leping;
Jannace, Thomas F.;
Fortina, Paolo;
Zeinali, Sirous;
White, Thomas W.;
Uitto, Jouni

Publication type:

Article

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 193, doi. 10.1002/humu.23683

By:

Kurtas, Nehir Edibe;
Xumerle, Luciano;
Leonardelli, Lorena;
Delledonne, Massimo;
Brusco, Alfredo;
Chrzanowska, Krystyna;
Schinzel, Albert;
Larizza, Daniela;
Guerneri, Silvana;
Natacci, Federica;
Bonaglia, Maria Clara;
Reho, Paolo;
Manolakos, Emmanouil;
Mattina, Teresa;
Soli, Fiorenza;
Provenzano, Aldesia;
Al‐Rikabi, Ahmed H.;
Errichiello, Edoardo;
Nazaryan‐Petersen, Lusine;
Giglio, Sabrina

Publication type:

Article

Evidence of predisposing epimutation in retinoblastoma.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 201, doi. 10.1002/humu.23684

By:

Gelli, Elisa;
Pinto, Anna Maria;
Somma, Serena;
Imperatore, Valentina;
Cannone, Marta G.;
Hadjistilianou, Theodora;
Francesco, Sonia;
Galimberti, Daniela;
Currò, Aurora;
Bruttini, Mirella;
Mari, Francesca;
Renieri, Alessandra;
Ariani, Francesca

Publication type:

Article

In silico and in vivo models for Qatari‐specific classical homocystinuria as basis for development of novel therapies.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 230, doi. 10.1002/humu.23682

By:

Ismail, Hesham M.;
Krishnamoorthy, Navaneethakrishnan;
Al‐Dewik, Nader;
Zayed, Hatem;
Mohamed, Nura A.;
Giacomo, Valeria Di;
Gupta, Sapna;
Häberle, Johannes;
Thöny, Beat;
Blom, Henk J.;
Kruger, Waren D.;
Ben‐Omran, Tawfeg;
Nasrallah, Gheyath K.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 2, p. 129, doi. 10.1002/humu.23569
Publication type:: Article

Cover Image, Volume 40, Issue 2.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. i, doi. 10.1002/humu.22672

By:

Knarston, Ingrid M.;
Robevska, Gorjana;
den Bergen, Jocelyn A;
Eggers, Stefanie;
Croft, Brittany;
Yates, Jason;
Hersmus, Remko;
Looijenga, Leendert H. J.;
Cameron, Fergus J.;
Monhike, Klaus;
Ayers, Katie L.;
Sinclair, Andrew H.

Publication type:

Article

Construction of cloning‐friendly minigenes for mammalian expression of full‐length human NF1 isoforms.

Published in:

Human Mutation, 2019, v. 40, n. 2, p. 187, doi. 10.1002/humu.23681

By:

Cui, Yan;
Morrison, Helen

Publication type:

Article