Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Patrick Kleyn"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100194- (2023)
Externí odkaz:
https://doaj.org/article/ecdc0d04f02d424eae8e26ed261c6a8d
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100193- (2023)
Externí odkaz:
https://doaj.org/article/63bbd34675084cd98970e9fd6ea5a2f7
Autor:
Shubh Sharma, Alastair S. Garfield, Bhavik Shah, Patrick Kleyn, Ilia Ichetovkin, Ida Hatoum Moeller, William R. Mowrey, Lex H.T. Van der Ploeg
Publikováno v:
Molecules, Vol 24, Iss 10, p 1892 (2019)
In this work we summarize our understanding of melanocortin 4 receptor (MC4R) pathway activation, aiming to define a safe and effective therapeutic targeting strategy for the MC4R. Delineation of cellular MC4R pathways has provided evidence for disti
Externí odkaz:
https://doaj.org/article/ecd4ab8fa303454aad6be67707f506ff
Publikováno v:
Expert Review of Endocrinology & Metabolism. 18:209-219
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94aca9e5c5bb706bdfa4f2588f5b08c8
https://doi.org/10.1080/17446651.2023.2179985
https://doi.org/10.1080/17446651.2023.2179985
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94a7fd77d270c5962cb39ace1b9004f0
https://doi.org/10.1530/endoabs.81.oc10.4
https://doi.org/10.1530/endoabs.81.oc10.4
Publikováno v:
Genetics in Medicine. 24:S78
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e6c7004efb2de9e64d8ef3b9746efcd
https://doi.org/10.1016/j.gim.2022.01.161
https://doi.org/10.1016/j.gim.2022.01.161
Autor:
Ch, Wang, Patrick Kleyn, Vitale E, Bm, Ross, Lien L, Xu J, Ta, Carter, Lm, Brzustowicz, Obici S, Selig S
Publikováno v:
Europe PubMed Central
We report the mapping and characterization of 12 microsatellite markers including 11 novel markers. All markers were generated from overlapping YAC clones that span the spinal muscular atrophy (SMA) locus. PCR amplification of 32 overlapping YAC clon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e21fc80cfd957bd2e1b496016991592e
https://pubmed.ncbi.nlm.nih.gov/7825579
https://pubmed.ncbi.nlm.nih.gov/7825579
Akademický článek
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Autor:
Patrick Kleyn, T. C. Gilliam
Publikováno v:
Seminars in neurology. 13(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b17b6012c5f98e10e3b90e8cba71a0
https://pubmed.ncbi.nlm.nih.gov/8272599
https://pubmed.ncbi.nlm.nih.gov/8272599
Autor:
Lm, Brzustowicz, Ch, Wang, Matseoane D, Patrick Kleyn, Vitale E, Das K, Gk, Penchaszadeh, Tl, Munsat, Hausmanowa-Petrusewicz I, Tc, Gilliam
Publikováno v:
Europe PubMed Central
Spinal Muscular Atrophy (SMA) is an inherited degenerative disorder of anterior horn cells that results in progressive muscle weakness and atrophy. The autosomal recessive forms of childhood-onset SMA have been mapped to chromosome 5q11.2-13.3, in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::84ee5f8224a099d09268822ade3e0ee5
http://europepmc.org/abstract/med/7825580
http://europepmc.org/abstract/med/7825580
