Fai-Man, Lo Ivan: search on Z-Library

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1

Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions

Yu, Kris Pui-Tak, Luk, Ho-Ming, Fung, Jasmine L.F., Chung, Brian Hon-Yin, Lo, Ivan Fai-Man

Journal:

European Journal of Medical Genetics

Year:

2021

File:

PDF, 1.88 MB

2021

2

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly

Wong, Chi Wai, Or, Penelope Mei Yu, Wang, Yubing, Li, Lisha, Li, Jing, Yan, Mingfei, Cao, Ye, Luk, Ho Ming, Tong, Tony Ming For, Leslie, Nick R., Lo, Ivan Fai-Man, Choy, Kwong Wai, Chan, Andrew Man Lo

Journal:

Autism Research

Year:

2018

Language:

english

File:

PDF, 599 KB

english, 2018

3

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype

Edwards, Jonathan J., Martinelli, Simone, Pannone, Luca, Lo, Ivan Fai-Man, Shi, Lisong, Edelmann, Lisa, Tartaglia, Marco, Luk, Ho-Ming, Gelb, Bruce D.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 195 KB

english, 2014

4

Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis

Luk, Ho-Ming, Ivan Lo, Fai-Man, Sano, Shinichiro, Matsubara, Keiko, Nakamura, Akie, Ogata, Tsutomu, Kagami, Masayo

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 2.92 MB

english, 2016

5

A report of three families with FBN1- related acromelic dysplasias and review of literature for genotype-phenotype correlation in gelophysic dysplasia

Cheng, S.W., Luk, Ho-Ming, Chu, YoYo W.Y., Tung, Yuet-Ling, Kwan, Elanie Yin-Wah, Lo, Ivan Fai-Man, Chung, Brian Hon-Yin

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 492 KB

english, 2017

6

Chinese patients with p.Ala172Phe-related Pfeiffer syndrome

Cheng, Shirely Sze Wing, Lo, Ivan Fai-Man, Luk, Ho-Ming

Journal:

Clinical Dysmorphology

Year:

2018

Language:

english

File:

PDF, 139 KB

english, 2018

7

Normal Cord Blood Thyroid-Stimulating Hormone in a Child with Resistance to Thyroid Hormone

Chan, Angel On-Kei, Lam, Ching-Wan, Lo, Ivan Fai-Man, Lam, Stephen Tak-Sum, Shek, Chi-Chung, Tiu, Sau-Cheung, Tong, Sui-Fan

Journal:

Neuroembryology and Aging

Year:

2004

Language:

english

File:

PDF, 53 KB

english, 2004

8

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

OR, June Siu-fong, TONG, Tony Ming-for, LO, Ivan Fai-man, LAM, Stephen Tak-sum

Journal:

Chinese Medical Journal

Year:

2006

File:

PDF, 207 KB

2006

9

Myhre syndrome

Yu, Kris Pui-Tak, Luk, Ho-Ming, Chung, Brian Hon-Yin, Lo, Ivan Fai-Man

Journal:

Clinical Dysmorphology

Year:

2019

File:

PDF, 367 KB

2019

10

PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

Siu-Fong, Or June, Ming-for, Tong Tony, Fai-Man, Lo Ivan, Chi-Wai, Law, Ting-Yat, Miu, Delphine, Trochet, Tak-Sum, Lam Stephen

Journal:

Chinese Medical Journal

Year:

2006

File:

PDF, 985 KB

2006

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