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Biomedical Microdevices|June 1, 2017
Nano-Calorimetry based point of care biosensor for metabolic disease managementEvan Kazura, Brad R Lubbers, Elliott Dawson, et al.
Human Genetics|January 26, 2002
Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolismZigmund Luka, Roberto Cerone, John A Phillips, et al.
The Journal of Clinical Endocrinology and Metabolism|February 12, 2002
An exon splice enhancer mutation causes autosomal dominant GH deficiencyChanda T Moseley, Primus E Mullis, Melissa A Prince, et al.
Human Mutation|August 20, 2014
A Novel SHOC2 Variant in RasopathyVickie Hannig, Myoungkun Jeoung, Eun Ryoung Jang, et al.
Genes|October 26, 2024
The Clinical Spectrum of Mosaic Genetic DiseaseHanabi Geiger, Yutaka Furuta, Suné van Wyk, et al.
The Journal of Biological Chemistry|July 1, 2008
Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonisticallyAmanda S Solis, Rui Peng, J Barrett Crawford, et al.
The Journal of Clinical Endocrinology and Metabolism|May 7, 2009
Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IBAli Mohamadi, Marco Martari, Cindy D Holladay, et al.
Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society|March 16, 2007
A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: a novel missense mutation in the initiation codon and a 7.6kb deletionYoshitaka Hayashi, Takashi Kamijo, Michiyo Yamamoto, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 1, 2026
Long-read sequencing for neurological disorders: opportunities, challenges, and future directionsHanabi Geiger, Yutaka Furuta, B Lakshitha A Perera, et al.
American Journal of Medical Genetics. Part A|June 26, 2026
Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond PhenylalanineYutaka Furuta, Shoji Yano, John A Phillips, et al.
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