Results 141 to 150 of about 3,537 (191)

Mercimek (Lens culinaris Medik.) çeşitlerinin DNA barkodlamametodu ile tanımlanması

, 2020
This study was conducted in order to identify lentil varieties with DNA barcodes that have permission to be produced in Turkey. 34 varieties originating from Turkey and 1 species originating from Canada were used in the study. The rbcL, matK and trnH-psbA chloroplast genes proposed by the `CBOL (the Barcode of life data) Plant group` were selected as ...
openaire   +1 more source

Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing. [PDF]

Neurol Genet
Ambrose A, McNiven V, Wilson D, Tempes A, Underwood M, Chau V, Schulze A, Wyszynska A, Desch K, Malik AR, Mercimek-Andrews S.   +10 more
europepmc   +1 more source

Outcomes of patients with cobalamin C deficiency: A single center experience. [PDF]

JIMD Rep, 2021
Bourque DK, Mellin-Sanchez LE, Bullivant G, Cruz V, Feigenbaum A, Hewson S, Raiman J, Schulze A, Siriwardena K, Mercimek-Andrews S.   +9 more
europepmc   +1 more source

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. [PDF]

Clin Genet, 2021
Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S, Undiagnosed Diseases Network, DDD Study, Bi W.   +21 more
europepmc   +1 more source

Nation-wide analysis of the impact of Covid-19 pandemic on daily urology practice in Turkey. [PDF]

Int J Clin Pract, 2021
Bozkurt O, Sen V, Irer B, Sagnak L, Onal B, Tanidir Y, Karabay E, Kaya C, Ceyhan E, Baser A, Duran MB, Suer E, Celen I, Selvi I, Ucer O, Karakoc S, Sarikaya E, Ozden E, Deger D, Egriboyun S, Ongun S, Gurboga O, Asutay MK, Kazaz IO, Yilmaz IO, Kisa E, Demirkiran ED, Horsanali O, Akarken I, Kizer O, Eren H, Ucar M, Cebeci OO, Kizilay F, Comez K, Mercimek MN, Ozkent MS, Izol V, Gudeloglu A, Ozturk B, Akbaba KT, Polat S, Gucuk A, Ziyan A, Selcuk B, Akdeniz F, Turgut H, Sabuncu K, Kaygisiz O, Ersahin V, Kahraman HI, Guzelsoy M, Demir O, Study Group of the Society of Urological Surgery.   +53 more
europepmc   +1 more source

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency. [PDF]

Orphanet J Rare Dis
Nasseri Moghaddam Z, Reinhardt EK, Thurm A, Potter BK, Smith M, Graham C, Tiller BH, Baker SA, Bilder DA, Bogar R, Britz J, Cafferty R, Coller DP, DeGrauw TJ, Hall V, Lipshutz GS, Longo N, Mercimek-Andrews S, Miller JS, Pasquali M, Salomons GS, Schulze A, Wheaton CP, Williams KF, Young SP, Li J, Balog S, Selucky T, Stöckler-Ipsiroglu S, Wallis H.   +29 more
europepmc   +1 more source

Dodecyl creatine ester therapy: from promise to reality. [PDF]

Cell Mol Life Sci
Mabondzo A, van de Kamp J, Mercimek-Andrews S.   +2 more
europepmc   +1 more source

Armenia-Turkey: reactivation of commerce [PDF]

, 2003
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core  

Coagulation abnormalities and vascular complications are common in PGM1-CDG. [PDF]

Mol Genet Metab
Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson AC, Morava E.   +6 more
europepmc   +1 more source

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease. [PDF]

AJNR Am J Neuroradiol
Armangue T, Whitehead MT, Tonduti D, Farina L, Tavasoli AR, Vossough A, Bennett ML, Vaia Y, Bernard G, Salsano E, Mercimek-Andrews S, Waldman A, Vanderver A.   +12 more
europepmc   +1 more source