Paediatrics & Adolescent Medicine: Conference papers Collection home page

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Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 2112
TitleAuthor(s)Issue DateViews
 
2019
 
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing.
Proceeding/Conference:15th Asian Oceanian Congress Of Child Neurology 19-21 Sept 2019 Kuala Lumpur.
2019
 
2018
 
The delivery of genetic counselling in Hong Kong from an interdisciplinary perspective
Proceeding/Conference:2nd World Congress on Genetic Counselling: Exploring the evidence that guides genetic counselling to improve patient care, Wellcome Genome Campus, UK, 2-4 Oct 2019
2019
 
Genomic medicine: A Hong Kong Story on how international collaboration has resulted in improved diagnosis, better patient management and discovery of new syndromes
Proceeding/Conference:Genetics Clinical Grand Rounds, Department of Genetics, Yale School of Medicine, ASHG 2019, Houston, USA, 22 Oct 2019.
2019
 
Genetic literacy and awareness of personalized medicine among undergraduates in Hong Kong
Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019
2019
 
Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases
Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019
2019
 
Clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in genetic diseases
Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019
2019
 
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8
Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019
2019
 
How common is mosaicism? The 9 years-experience in a university affiliated genetic clinic in Hong Kong
Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019
2019
 
Evaluating the diagnostgic impact and cost of rapid whole-exome sequencing for rare genetic diseases in Hong Kong
Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019
2019
 
Exome sequencing identifies compound heterozygous DYNC2H1 variants associated with short-rib polydactyly syndrome type III with involvement of omphalocele in a fetus.
Proceeding/Conference:23rd Internatinal Conference on Prenatal Diagnosis and Therapy (ISPD 2019), Singapore, 7-11 Sept 2019
2019
 
Collagen VI and XII related myopathies: clinical variability and novel variants found in Hong Kong patients
Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019
2019
 
Diagnostic outcome of whole exome sequencing in Hong Kong familes with autism spectrum disorder
Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019.
2019
 
2019
 
2019
 
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations.
Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 14th -18 th Nov 2018
2019
 
2019
 
Impact of Parent and Child Factors on Behavioural Problems of Children from Low-income Chinese Families
Proceeding/Conference:7th Asia Pacific Primary Care Research Conference (APPCRC)
2019
8
 
Understanding stress among low-income parents in Hong Kong
Proceeding/Conference:WONCA Asia Pacific Regional Conference 2019
2019
6
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 2112