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

Results: 12

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
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
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
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
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
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
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