Lo, Ivan Fai : rechercher sur 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

Année:

2021

Fichier:

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

Année:

2018

Langue:

english

Fichier:

PDF, 599 KB

english, 2018

3

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

Chong, Wilson Wai, Lo, Ivan Fai, Lam, Stephen Tak, Wang, Chi, Luk, Ho, Leung, Tak, Choy, Kwong

Journal:

Molecular Cytogenetics

Année:

2014

Langue:

english

Fichier:

PDF, 221 KB

english, 2014

4

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

Année:

2014

Langue:

english

Fichier:

PDF, 195 KB

english, 2014

5

1066 Different Adenoma Recurrence Rates on Surveillance Colonoscopy in Patients With Right- or Left-Sided Colonic Cancer After Curative Colectomy

Lam, Yuk-Fai, Tong, Teresa, Lo, Oswens, Seto, Wai-Kay, Hung, Ivan FN, Law, Wai Lun, Leung, Wai K.

Journal:

Gastroenterology

Année:

2016

Langue:

english

Fichier:

PDF, 560 KB

english, 2016

6

Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings

Luk, Ho Ming, Tang, Tao, Choy, Kwong Wai Richard, Tong, Ming For Tony, Wong, On Kit, Lo, Fai Man Ivan

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 603 KB

english, 2016

7

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

Année:

2016

Langue:

english

Fichier:

PDF, 2.92 MB

english, 2016

8

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

Année:

2017

Langue:

english

Fichier:

PDF, 492 KB

english, 2017

9

Chinese patients with p.Ala172Phe-related Pfeiffer syndrome

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

Journal:

Clinical Dysmorphology

Année:

2018

Langue:

english

Fichier:

PDF, 139 KB

english, 2018

10

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

Année:

2004

Langue:

english

Fichier:

PDF, 53 KB

english, 2004

11

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

Année:

2006

Fichier:

PDF, 207 KB

2006

12

Myhre syndrome

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

Journal:

Clinical Dysmorphology

Année:

2019

Fichier:

PDF, 367 KB

2019

13

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

Année:

2006

Fichier:

PDF, 985 KB

2006

14

Prenatal diagnosis and longâterm followâup of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

Lin, Sheng Mou, Luk, Ho Ming, Lo, Ivan Fai Man, Tam, WaiâKeung, Chan, Kelvin Yuen Kwong, Tse, HeiâYee, Leung, Wing Cheong, Tang, Mary Hoi Yin, Kan, Anita Sik Yau

Journal:

Clinical Case Reports

Année:

2020

Fichier:

PDF, 776 KB

2020