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Journal of the Formosan Medical Association = Taiwan Yi Zhi
|
May 4, 2010
NEMO gene mutations in Chinese patients with incontinentia pigmenti
Pa-Fan Hsiao, Shuan-Pei Lin, Shu-Shien Chiang, et al.
International Journal of Neonatal Screening
|
September 22, 2025
Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts
Éliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 17, 2006
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers
Shuan-Pei Lin, Jui-Hung Chang, Guey-Jen Lee-Chen, et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi
|
August 23, 2002
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity
Guey-Jen Lee-Chen, Shuan-Pei Lin, I-Shen Chen, et al.
Prenatal Diagnosis
|
June 21, 2005
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome
Chih-Ping Chen, Tung-Yao Chang, Shuan-Pei Lin, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
April 29, 2014
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
June 11, 2017
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia
Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, et al.
Prenatal Diagnosis
|
June 19, 2003
Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Prenatal Diagnosis
|
July 29, 2005
Prenatal magnetic resonance imaging demonstration of the systemic feeding artery of a pulmonary sequestration associated with in utero regression
Chih-Ping Chen, Yu-Peng Liu, Shuan-Pei Lin, et al.
European Journal of Medical Genetics
|
March 30, 2010
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Page
of 29
Search research articles
Search
Showing results (71-80 of 281) with videos related to
Sort By:
Page
of 29
Journal of the Formosan Medical Association = Taiwan Yi Zhi
|
May 4, 2010
NEMO gene mutations in Chinese patients with incontinentia pigmenti
Pa-Fan Hsiao, Shuan-Pei Lin, Shu-Shien Chiang, et al.
International Journal of Neonatal Screening
|
September 22, 2025
Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts
Éliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 17, 2006
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers
Shuan-Pei Lin, Jui-Hung Chang, Guey-Jen Lee-Chen, et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi
|
August 23, 2002
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity
Guey-Jen Lee-Chen, Shuan-Pei Lin, I-Shen Chen, et al.
Prenatal Diagnosis
|
June 21, 2005
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome
Chih-Ping Chen, Tung-Yao Chang, Shuan-Pei Lin, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
April 29, 2014
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
June 11, 2017
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia
Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, et al.
Prenatal Diagnosis
|
June 19, 2003
Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Prenatal Diagnosis
|
July 29, 2005
Prenatal magnetic resonance imaging demonstration of the systemic feeding artery of a pulmonary sequestration associated with in utero regression
Chih-Ping Chen, Yu-Peng Liu, Shuan-Pei Lin, et al.
European Journal of Medical Genetics
|
March 30, 2010
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, et al.
Page
of 29