Works matching IS 03406717 AND DT 2020 AND VI 139 AND IP 5

Results: 11

A population-based approach for gene prioritization in understanding complex traits.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 647, doi. 10.1007/s00439-020-02152-4

By:

Mezzavilla, Massimo;
Cocca, Massimiliano;
Guidolin, Francesca;
Gasparini, Paolo

Publication type:

Article

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 657, doi. 10.1007/s00439-020-02153-3

By:

Mohamed, Fedah E.;
Al Sorkhy, Mohammad;
Ghattas, Mohammad A.;
Al-Gazali, Lihadh;
Al-Dirbashi, Osama;
Al-Jasmi, Fatma;
Ali, Bassam R.

Publication type:

Article

Ethnogeographic and inter-individual variability of human ABC transporters.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 623, doi. 10.1007/s00439-020-02150-6

By:

Xiao, Qingyang;
Zhou, Yitian;
Lauschke, Volker M.

Publication type:

Article

CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 615, doi. 10.1007/s00439-020-02144-4

By:

Al-Abdi, Lama;
Al Murshedi, Fathiya;
Elmanzalawy, Alaa;
Al Habsi, Asila;
Helaby, Rana;
Ganesh, Anuradha;
Ibrahim, Niema;
Patel, Nisha;
Alkuraya, Fowzan S.

Publication type:

Article

A genomics approach to females with infertility and recurrent pregnancy loss.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 605, doi. 10.1007/s00439-020-02143-5

By:

Maddirevula, Sateesh;
Awartani, Khalid;
Coskun, Serdar;
AlNaim, Latifa F.;
Ibrahim, Niema;
Abdulwahab, Firdous;
Hashem, Mais;
Alhassan, Saad;
Alkuraya, Fowzan S.

Publication type:

Article

A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 593, doi. 10.1007/s00439-020-02140-8

By:

Nudel, Ron;
Appadurai, Vivek;
Schork, Andrew J.;
Buil, Alfonso;
Bybjerg-Grauholm, Jonas;
Børglum, Anders D.;
Daly, Mark J.;
Mors, Ole;
Hougaard, David M.;
Mortensen, Preben Bo;
Werge, Thomas;
Nordentoft, Merete;
Thompson, Wesley K.;
Benros, Michael E.

Publication type:

Article

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 575, doi. 10.1007/s00439-020-02138-2

By:

Krab, Lianne C.;
Marcos-Alcalde, Iñigo;
Assaf, Melissa;
Balasubramanian, Meena;
Andersen, Janne Bayer;
Bisgaard, Anne-Marie;
Fitzpatrick, David R.;
Gudmundsson, Sanna;
Huisman, Sylvia A.;
Kalayci, Tugba;
Maas, Saskia M.;
Martinez, Francisco;
McKee, Shane;
Menke, Leonie A.;
Mulder, Paul A.;
Murch, Oliver D.;
Parker, Michael;
Pie, Juan;
Ramos, Feliciano J.;
Rieubland, Claudine

Publication type:

Article

Determining the incidence of rare diseases.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 569, doi. 10.1007/s00439-020-02135-5

By:

Bainbridge, Matthew N.

Publication type:

Article

Reply to: Comment on "Salokannel et al., legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks".

Published in:

2020

By:

Salokannel, Marjut;
Tarkkala, Heta;
Snell, Karoliina

Publication type:

Letter

Comment on "Salokannel et al., Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks".

Published in:

2020

By:

Liede, Sandra;
Soini, Sirpa;
Southerington, Tom

Publication type:

Letter

Decoding a highly mixed Kazakh genome.

Published in:

Human Genetics, 2020, v. 139, n. 5, p. 557, doi. 10.1007/s00439-020-02132-8

By:

Seidualy, Madina;
Blazyte, Asta;
Jeon, Sungwon;
Bhak, Youngjune;
Jeon, Yeonsu;
Kim, Jungeun;
Eriksson, Anders;
Bolser, Dan;
Yoon, Changhan;
Manica, Andrea;
Lee, Semin;
Bhak, Jong

Publication type:

Article