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Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. Yi F, Hong X, Kumar AB, Zong C, Boons GJ, Scott CR, Turecek F, Robinson BH, Gelb MH. Mol Genet Metab. 2018 May 23; . Epub 2018 May 23.
Cocaine . Drugs and Lactation Database (LactMed). 2006-.
The BabySeq project: implementing genomic sequencing in newborns. Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, et al. BMC Pediatr. 2018 Jul 9; 18(1):225. Epub 2018 Jul 9.
One-step versus two-step diagnostic testing for gestational diabetes: a randomized controlled trial. Khalifeh A, Eckler R, Felder L, Saccone G, Caissutti C, Berghella V. J Matern Fetal Neonatal Med. 2018 Jul 9; :1-171. Epub 2018 Jul 9.
Carrier frequencies of hearing loss variants in newborns of China: A meta-analysis. Fu Y, Zha S, Lü N, Xu H, Zhang X, Shi W, Zha J. J Evid Based Med. 2018 Jul 2; . Epub 2018 Jul 2.
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Iodine . Drugs and Lactation Database (LactMed). 2006-.
Effectiveness of early intervention programs for parents of preterm infants: a meta-review of systematic reviews. Puthussery S, Chutiyami M, Tseng PC, Kilby L, Kapadia J. BMC Pediatr. 2018 Jul 9; 18(1):223. Epub 2018 Jul 9.
Carrier frequencies of hearing loss variants in newborns of China: A meta-analysis. Fu Y, Zha S, Lü N, Xu H, Zhang X, Shi W, Zha J. J Evid Based Med. 2018 Jul 2; . Epub 2018 Jul 2.
Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist. Hopkins MK, Dugoff L, Kuller JA. Obstet Gynecol Surv. 2018 Jun; 73(6):361-367.
Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases. Tingley K, Coyle D, Graham ID, Sikora L, Chakraborty P, Wilson K, Mitchell JJ, Stockler-Ipsiroglu S, Potter BK, Canadian Inherited Metabolic Diseases Research Network.. Orphanet J Rare Dis. 2018 Jun 28; 13(1):104. Epub 2018 Jun 28.
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Medical Genetics Topic: All Diagnosis Differential Diagnosis Clinical Description Management Genetic Counseling Molecular Genetics Genetic Testing
Maternal Iodine dietary supplements and neonatal thyroid stimulating hormone in Gippsland, Australia. Mitchell EKL, Martin JC, D'Amore A, Francis I, Savige GS. Asia Pac J Clin Nutr. 2018; 27(4):848-852.
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, et al. J Inherit Metab Dis. 2018 Jul 24; . Epub 2018 Jul 24.
Next-generation sequencing as a second-tier diagnostic test for newborn screening. Luo X, Wang R, Fan Y, Gu X, Yu Y. J Pediatr Endocrinol Metab. 2018 Jul 21; . Epub 2018 Jul 21.
Genetic and clinical characteristics of Filipino patients with Gaucher disease. Chiong MAD, Racoma MJC, Abacan MAR. Mol Genet Metab Rep. 2018 Jun; 15:110-115. Epub 2018 Apr 5.
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. Al-Hassnan ZN, Khalifa OA, Bubshait DK, Tulbah S, Alkorashy M, Alzaidan H, Alowain M, Rahbeeni Z, Al-Sayed M. Mol Genet Metab Rep. 2018 Jun; 15:50-54. Epub 2018 Feb 7.
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