Search Results - Shuan-Pei Lin

Pregnancy with de novo 9q34.3 microdeletion and Kleefstra syndrome in the fetus may be associated with an abnormal maternal serum screening result by Chih-Ping Chen, Shuan-Pei Lin, Hui-Bo Li, Yen-Ni Chen, Wayseen Wang

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Intravenous Pamidronate Therapy in Taiwanese Patients with Osteogenesis Imperfecta by Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Ming-Ren Chen, Chia-Ying Chang

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Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism by Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang

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Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome by Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang

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Genetic counseling of a prenatally detected familial 18.79-kb Xp21.1 microduplication encompassing exon 13 of DMD in a pregnancy with no apparent phenotypic abnormalities in the ma... by Chih-Ping Chen, Shuan-Pei Lin, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

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X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant by Tsai-Ling Liu, Shuan-Pei Lin, Martin Zenker, Tung-Ying Chen, Jui-Hsing Chang, Chun-Chen Lin, Jeng-Daw Tsai

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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... by Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Wayseen Wang

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Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and l... by Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wayseen Wang

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Osteogenesis imperfecta type IV: Prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome by Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Schu-Rern Chern, Ming-Huei Lin, Jun-Wei Su, Wayseen Wang

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Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception by Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Jian-Pei Huang, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang

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Comparison of free fatty acid content of human milk from Taiwanese mothers and infant formula by Chih-Kuang Chuang, Chun-Yan Yeung, Wai-Tim Jim, Shuan-Pei Lin, Tuen-Jen Wang, Sung-Fa Huang, Hsuan-Liang Liu

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Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental d... by Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry by Chih-Ping Chen, Yi-Ning Su, Shuan-Pei Lin, Schu-Rern Chern, Jun-Wei Su, Yu-Ting Chen, Meng-Shan Lee, Wayseen Wang

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Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, a... by Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang

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Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder by Chih-Ping Chen, Shuan-Pei Lin, Chung-Lin Lee, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang

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Wiedemann-Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan by Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

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Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with s... by Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Meng-Shan Lee, Wayseen Wang

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Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from... by Chih-Ping Chen, Pu-Tsui Wang, Shuan-Pei Lin, Schu-Rern Chern, Yu-Ting Chen, Peih-Shan Wu, Yu-Ling Kuo, Wen-Lin Chen, Wayseen Wang

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Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes by Chih-Ping Chen, Shuan-Pei Lin, Yi-Ning Su, Fuu-Jen Tsai, Pei-Chen Wu, Dai-Dyi Town, Li-Feng Chen, Meng-Shan Lee, Wayseen Wang

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A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and incr... by Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wen-Lin Chen, Wayseen Wang

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