Results 151 to 160 of about 3,537 (191)

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome. [PDF]

Orphanet J Rare Dis
Ambrose A, Bahl S, Sharma S, Zhang D, Hung C, Jain-Ghai S, Chan A, Mercimek-Andrews S.   +7 more
europepmc   +1 more source

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. [PDF]

Mol Genet Metab
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S.   +13 more
europepmc   +1 more source

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. [PDF]

Am J Intellect Dev Disabil, 2020
Farmer CA, Kaat AJ, Thurm A, Anselm I, Akshoomoff N, Bennett A, Berry L, Bruchey A, Barshop BA, Berry-Kravis E, Bianconi S, Cecil KM, Davis RJ, Ficicioglu C, Porter FD, Wainer A, Goin-Kochel RP, Leonczyk C, Guthrie W, Koeberl D, Love-Nichols J, Mamak E, Mercimek-Andrews S, Thomas RP, Spiridigliozzi GA, Sullivan N, Sutton VR, Udhnani MD, Waisbren SE, Miller JS.   +29 more
europepmc   +1 more source

Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review. [PDF]

Curr Dev Nutr
Jafari A, Abbasi MM, Abbasi H, Rahnemayan S, Bakhshimoghaddam F, Doaei S.   +5 more
europepmc   +1 more source

Organik nedir? ne değildir? [PDF]

, 2011
Cetiner, Selim, Çetiner, Selim
core  

Diyarbakır`da mercimek (Lens culinaris Medik.)`te ekim zamanının verim üzerine etkisi

, 2018
Bu çalışma, Güneydoğu Anadolu Bölgesinde geniş alanlarda ekimi yapılan mercimekte farklı ekim zamanlarının verim üzerine etkilerini saptamak amacıyla 1996-1997 yetişme döneminde D.Ü.Ziraat Fakültesi Deneme Alanında yürütülmüştür. Üç ekim zamanı (15 Kasım, 5 Aralık, 25 Aralık) ve altı mercimek çeşidinin (Seyran 96, Fırat 87, Yerli Kırmızı, Kışlık ...
openaire   +2 more sources

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns. [PDF]

Front Genet
Lipiński P, Wójcicka-Kowalczyk K, Bogdańska A, Ehmke E, Pajdowska M, Skrzypek K, Charzewska A, Hoffman-Zacharska D.   +7 more
europepmc   +1 more source

Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement. [PDF]

Orphanet J Rare Dis
Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Angel K, Gentle J, Smith M, Offringa M, Butcher NJ, Campeau PM, Chakraborty P, Chan A, Fergusson D, Mamak E, McClelland P, Mercimek-Andrews S, Mhanni A, Moazin Z, Rockman-Greenberg C, Rupar CA, Skidmore B, Stockler S, Thavorn K, Wyatt A, Potter BK, INFORM RARE Network.   +25 more
europepmc   +1 more source

Biyoçeşitlilik nedir? ne değildir? [PDF]

, 2010
Cetiner, Selim, Çetiner, Selim
core  

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta. [PDF]

Mol Genet Metab Rep
Almenabawy N, Bahl S, Ostlund AL, Ghai-Jain S, Sosova I, Chan A, Mercimek-Andrews S.   +6 more
europepmc   +1 more source