Suchergebnisse - "Cheng, Shirley S W"

PubPharm (21)

1

Clinical and molecular characteristics of hemophilia A affected individuals and carriers : A 24 years experience from three centers

enthalten in: American journal of medical genetics. Part A | 2024

von Ho, S. | Ng, S. | Yung, T. | +7

2

Intellectual Functioning of Children With Isolated PRS, PRS-Plus, and Syndromic PRS

enthalten in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association | 2024

von Malarbi, S. | Chisholm, A. | Gunn-Charlton, J. | +7

3

Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration

enthalten in: Ophthalmic genetics | 2023

von Wong, E. | Cheng, S. | Woo, T. | +2

4

Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders

enthalten in: Frontiers in genetics | 2022

von Cao, Y. | Luk, H. | Zhang, Y. | +9

5

Prenatal phenotype of Kabuki syndrome : A case series and literature review

enthalten in: Prenatal diagnosis | 2021

von So, P. | Luk, H. | Cheung, K. | +10

6

Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome

enthalten in: American journal of medical genetics. Part A | 2021

von Cheng, S. | Luk, H. | Mok, M. | +2

7

An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome)

enthalten in: American journal of medical genetics. Part A | 2021

von Cheng, S. | Luk, H. | Lo, I.

8

Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong

enthalten in: American journal of medical genetics. Part A | 2021

von So, P. | Luk, H. | Yu, K. | +5

9

First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing

enthalten in: Genes | 2021

von Shu, W. | Cheng, S. | Xue, S. | +5

10

Adult Chinese twins with Kenny-Caffey syndrome type 2 : A potential age-dependent phenotype and review of literature

enthalten in: American journal of medical genetics. Part A | 2021

von Cheng, S. | Chan, P. | Luk, H. | +2