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

Results: 11

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
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
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