Birk-Barel syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Birk-Barel syndrome" in English language version.

refsWebsite

Global rank English rank

4^th place

2^nd place

5^th place

5,181^st place

3,260^th place

18^th place

17^th place

11^th place

8^th place

doi.org

Cooper, Alexis; Butto, Tamer; Hammer, Niklas; Jagannath, Somanath; Fend-Guella, Desiree Lucia; Akhtar, Junaid; Radyushkin, Konstantin; Lesage, Florian; Winter, Jennifer; Strand, Susanne; Roeper, Jochen (2020-01-24). "Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome". Nature Communications. 11 (1): 480. Bibcode:2020NatCo..11..480C. doi:10.1038/s41467-019-13918-4. ISSN 2041-1723. PMC 6981138. PMID 31980599.
Barel, Ortal; Shalev, Stavit A.; Ofir, Rivka; Cohen, Asi; Zlotogora, Joel; Shorer, Zamir; Mazor, Galia; Finer, Gal; Khateeb, Shareef; Zilberberg, Noam; Birk, Ohad S. (August 2008). "Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9". American Journal of Human Genetics. 83 (2): 193–199. doi:10.1016/j.ajhg.2008.07.010. ISSN 1537-6605. PMC 2495061. PMID 18678320.
Šedivá, Marie; Laššuthová, Petra; Zámečník, Josef; Sedláčková, Lucie; Seeman, Pavel; Haberlová, Jana (January 2020). "Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome". European Journal of Medical Genetics. 63 (1): 103619. doi:10.1016/j.ejmg.2019.01.009. ISSN 1878-0849. PMID 30690205. S2CID 59341633.

Cooper, Alexis; Butto, Tamer; Hammer, Niklas; Jagannath, Somanath; Fend-Guella, Desiree Lucia; Akhtar, Junaid; Radyushkin, Konstantin; Lesage, Florian; Winter, Jennifer; Strand, Susanne; Roeper, Jochen (2020-01-24). "Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome". Nature Communications. 11 (1): 480. Bibcode:2020NatCo..11..480C. doi:10.1038/s41467-019-13918-4. ISSN 2041-1723. PMC 6981138. PMID 31980599.

Cooper, Alexis; Butto, Tamer; Hammer, Niklas; Jagannath, Somanath; Fend-Guella, Desiree Lucia; Akhtar, Junaid; Radyushkin, Konstantin; Lesage, Florian; Winter, Jennifer; Strand, Susanne; Roeper, Jochen (2020-01-24). "Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome". Nature Communications. 11 (1): 480. Bibcode:2020NatCo..11..480C. doi:10.1038/s41467-019-13918-4. ISSN 2041-1723. PMC 6981138. PMID 31980599.
Barel, Ortal; Shalev, Stavit A.; Ofir, Rivka; Cohen, Asi; Zlotogora, Joel; Shorer, Zamir; Mazor, Galia; Finer, Gal; Khateeb, Shareef; Zilberberg, Noam; Birk, Ohad S. (August 2008). "Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9". American Journal of Human Genetics. 83 (2): 193–199. doi:10.1016/j.ajhg.2008.07.010. ISSN 1537-6605. PMC 2495061. PMID 18678320.
Šedivá, Marie; Laššuthová, Petra; Zámečník, Josef; Sedláčková, Lucie; Seeman, Pavel; Haberlová, Jana (January 2020). "Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome". European Journal of Medical Genetics. 63 (1): 103619. doi:10.1016/j.ejmg.2019.01.009. ISSN 1878-0849. PMID 30690205. S2CID 59341633.

Cooper, Alexis; Butto, Tamer; Hammer, Niklas; Jagannath, Somanath; Fend-Guella, Desiree Lucia; Akhtar, Junaid; Radyushkin, Konstantin; Lesage, Florian; Winter, Jennifer; Strand, Susanne; Roeper, Jochen (2020-01-24). "Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome". Nature Communications. 11 (1): 480. Bibcode:2020NatCo..11..480C. doi:10.1038/s41467-019-13918-4. ISSN 2041-1723. PMC 6981138. PMID 31980599.
Barel, Ortal; Shalev, Stavit A.; Ofir, Rivka; Cohen, Asi; Zlotogora, Joel; Shorer, Zamir; Mazor, Galia; Finer, Gal; Khateeb, Shareef; Zilberberg, Noam; Birk, Ohad S. (August 2008). "Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9". American Journal of Human Genetics. 83 (2): 193–199. doi:10.1016/j.ajhg.2008.07.010. ISSN 1537-6605. PMC 2495061. PMID 18678320.

"KCNK9 Imprinting Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2021-04-26.

Šedivá, Marie; Laššuthová, Petra; Zámečník, Josef; Sedláčková, Lucie; Seeman, Pavel; Haberlová, Jana (January 2020). "Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome". European Journal of Medical Genetics. 63 (1): 103619. doi:10.1016/j.ejmg.2019.01.009. ISSN 1878-0849. PMID 30690205. S2CID 59341633.

Cooper, Alexis; Butto, Tamer; Hammer, Niklas; Jagannath, Somanath; Fend-Guella, Desiree Lucia; Akhtar, Junaid; Radyushkin, Konstantin; Lesage, Florian; Winter, Jennifer; Strand, Susanne; Roeper, Jochen (2020-01-24). "Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome". Nature Communications. 11 (1): 480. Bibcode:2020NatCo..11..480C. doi:10.1038/s41467-019-13918-4. ISSN 2041-1723. PMC 6981138. PMID 31980599.
Barel, Ortal; Shalev, Stavit A.; Ofir, Rivka; Cohen, Asi; Zlotogora, Joel; Shorer, Zamir; Mazor, Galia; Finer, Gal; Khateeb, Shareef; Zilberberg, Noam; Birk, Ohad S. (August 2008). "Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9". American Journal of Human Genetics. 83 (2): 193–199. doi:10.1016/j.ajhg.2008.07.010. ISSN 1537-6605. PMC 2495061. PMID 18678320.
Šedivá, Marie; Laššuthová, Petra; Zámečník, Josef; Sedláčková, Lucie; Seeman, Pavel; Haberlová, Jana (January 2020). "Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome". European Journal of Medical Genetics. 63 (1): 103619. doi:10.1016/j.ejmg.2019.01.009. ISSN 1878-0849. PMID 30690205. S2CID 59341633.