Found: 124
Select item for more details and to access through your institution.
Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 3, p. 494, doi. 10.3390/jpm13030494
- By:
- Publication type:
- Article
The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1343, doi. 10.3390/jpm12081343
- By:
- Publication type:
- Article
Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1338, doi. 10.3390/jpm12081338
- By:
- Publication type:
- Article
Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1199, doi. 10.3390/jpm12081199
- By:
- Publication type:
- Article
Functional Independence of Taiwanese Children with Osteogenesis Imperfecta.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1205, doi. 10.3390/jpm12081205
- By:
- Publication type:
- Article
Surgical Strategy to Decrease the Revision Rate of Fassier–Duval Nailing in the Lower Limbs of Osteogenesis Imperfecta.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1151, doi. 10.3390/jpm12071151
- By:
- Publication type:
- Article
Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1023, doi. 10.3390/jpm12071023
- By:
- Publication type:
- Article
Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 817, doi. 10.3390/jpm12050817
- By:
- Publication type:
- Article
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1197, doi. 10.3390/jpm11111197
- By:
- Publication type:
- Article
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1066, doi. 10.3390/jpm11111066
- By:
- Publication type:
- Article
Omphalocele and Gastroschisis in Taiwan.
- Published in:
- European Journal of Pediatrics, 2002, v. 161, n. 10, p. 552, doi. 10.1007/s00431-002-1031-8
- By:
- Publication type:
- Article
Skipping of exon 12 as a consequence of a point mutation (1898 + 5G → T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 3, p. 125, doi. 10.1111/j.1399-0004.1995.tb03944.x
- By:
- Publication type:
- Article
Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).
- Published in:
- 2014
- By:
- Publication type:
- journal article
A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses.
- Published in:
- 2014
- By:
- Publication type:
- journal article
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9979, doi. 10.3390/ijms23179979
- By:
- Publication type:
- Article
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 114, doi. 10.3390/ijms21010114
- By:
- Publication type:
- Article
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR.
- Published in:
- Electrophoresis, 2009, v. 30, n. 2, p. 410, doi. 10.1002/elps.200800225
- By:
- Publication type:
- Article
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 7, p. 1, doi. 10.1002/mgg3.2494
- By:
- Publication type:
- Article
Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2160
- By:
- Publication type:
- Article
Training in clinical genetics and genetic counseling in Asia.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 177, doi. 10.1002/ajmg.c.31703
- By:
- Publication type:
- Article
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2010, v. 48, n. 4, p. 485, doi. 10.1515/CCLM.2010.100
- By:
- Publication type:
- Article
Plasma Free Amino Acids in Taiwan Chinese: the Effect of Age.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2002, v. 40, n. 4, p. 1
- By:
- Publication type:
- Article
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 357, doi. 10.1002/ajmg.a.61429
- By:
- Publication type:
- Article
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1799, doi. 10.1002/ajmg.a.40351
- By:
- Publication type:
- Article
Functional independence of Taiwanese children with Prader–Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1309, doi. 10.1002/ajmg.a.38705
- By:
- Publication type:
- Article
Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2114, doi. 10.1002/ajmg.a.36567
- By:
- Publication type:
- Article
Functional independence of Taiwanese children with VACTERL association.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3101, doi. 10.1002/ajmg.a.33643
- By:
- Publication type:
- Article
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3095, doi. 10.1002/ajmg.a.34326
- By:
- Publication type:
- Article
Characterization of pulmonary function impairments in patients with mucopolysaccharidoses-changes with age and treatment.
- Published in:
- Pediatric Pulmonology, 2014, v. 49, n. 3, p. 277, doi. 10.1002/ppul.22774
- By:
- Publication type:
- Article
Polysomnographic characteristics in patients with mucopolysaccharidoses.
- Published in:
- Pediatric Pulmonology, 2010, v. 45, n. 12, p. 1205, doi. 10.1002/ppul.21309
- By:
- Publication type:
- Article
Polysomnographic characteristics in patients with Prader-Willi syndrome.
- Published in:
- Pediatric Pulmonology, 2007, v. 42, n. 10, p. 881, doi. 10.1002/ppul.20673
- By:
- Publication type:
- Article
Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 2, p. 175, doi. 10.1002/pd.523
- By:
- Publication type:
- Article
Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 12, p. 1063, doi. 10.1002/pd.459
- By:
- Publication type:
- Article
Perinatal imaging findings of inherited Sotos syndrome.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 10, p. 887, doi. 10.1002/pd.433
- By:
- Publication type:
- Article
Microcephaly with dysgenesis of corpus callosum and colpocephaly in the survivor after the first-trimester death of a monochorionic co-twin.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 7, p. 634, doi. 10.1002/pd.357
- By:
- Publication type:
- Article
Fetal cervico-mediastinal cystic hygroma associated with maternal serum screening positive for Down syndrome.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 2, p. 166, doi. 10.1002/pd.276
- By:
- Publication type:
- Article
Prenatal diagnosis of inherited satellited non-acrocentric chromosomes.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 5, p. 384, doi. 10.1002/(SICI)1097-0223(200005)20:5<384::AID-PD817>3.0.CO;2-2
- By:
- Publication type:
- Article
Prenatal prediction of spinal muscular atrophy in Chinese.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Concomitant chyloperitoneum and omental cysts presenting as fetal ascites with intra-abdominal cysts on prenatal ultrasound.
- Published in:
- 1998
- By:
- Publication type:
- Letter
Maternal serum screening abnormality in a fetus associated with arthrogryposis multiplex congenita and amyoplasia.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 12, p. 1187, doi. 10.1002/(SICI)1097-0223(199712)17:12<1187::AID-PD203>3.0.CO;2-A
- By:
- Publication type:
- Article
Prenatal diagnosis of partial trisomy 12 and partial trisomy 21 due to a 3:1 segregation of maternal reciprocal translocation t(12;21) (p13.3;q21).
- Published in:
- 1997
- By:
- Publication type:
- journal article
PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 3p AND PARTIAL TRISOMY 2p IN A FETUS ASSOCIATED WITH SHORTENING OF THE LONG BONES AND A SINGLE UMBILICAL ARTERY.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 3, p. 270, doi. 10.1002/(SICI)1097-0223(199603)16:3<270::AID-PD836>3.0.CO;2-0
- By:
- Publication type:
- Article
Mutations in Pseudohypoparathyroidism 1a and Pseudopseudohypoparathyroidism in Ethnic Chinese.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090640
- By:
- Publication type:
- Article
Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan.
- Published in:
- Biochemical Genetics, 2014, v. 52, n. 9/10, p. 415, doi. 10.1007/s10528-014-9657-6
- By:
- Publication type:
- Article