Biallelic variants in GLB1 causes GM1-gangliosidosis disease in a family with two siblings
| Main Authors: | Karuppiah, Thilakavathy, Ling, King Hwa, Lim, Chong Teik, Shankar, Aissvarya, Thong, Meow Keong, Abdul Aziz, Noraishah Mydin |
|---|---|
| Format: | Conference or Workshop Item |
| Language: | English |
| Published: |
2024
|
| Online Access: | http://psasir.upm.edu.my/id/eprint/116511/ http://psasir.upm.edu.my/id/eprint/116511/1/116511.pdf |
Similar Items
The Einsiedeln GM Eclogues: 1
by: Kinsella, John
Published: (2016)
by: Kinsella, John
Published: (2016)
Identification of a novel IGSF1 variant in two Malaysian malesiblings with central hypothyroidism and macroorchidism
by: Lee, Yee Lin, et al.
Published: (2024)
by: Lee, Yee Lin, et al.
Published: (2024)
Identification of a novel IGSF1 variant in two Malaysian malesiblings with central hypothyroidism and macroorchidism
by: Lee, Yee Lin, et al.
Published: (2024)
by: Lee, Yee Lin, et al.
Published: (2024)
Molecular genetics of Dupuytren’s contracture
by: Aissvarya, Shankar, et al.
Published: (2024)
by: Aissvarya, Shankar, et al.
Published: (2024)
GM to relaunch Aveo series
Published: (2008)
Published: (2008)
Knockout siblings
by: The Sun,
Published: (2014)
by: The Sun,
Published: (2014)
Type 1 diabetes: a relatively unknown sibling of type 2 diabetes
by: Ahmad Mahfuz, Gazali
Published: (2021)
by: Ahmad Mahfuz, Gazali
Published: (2021)
Attitudes and behaviour towards GM food
by: Spence, Alexa
Published: (2006)
by: Spence, Alexa
Published: (2006)
Predicting the impact of PHEX, FGF23 and DMP1 gene variants found in Malaysian Malay patients with Hypophosphataemic Rickets through in silico analysis of protein function and mRNA secondary structure
by: Razali, Nurul Nadirah, et al.
Published: (2019)
by: Razali, Nurul Nadirah, et al.
Published: (2019)
OKU student, twins and siblings among 1,459 new students enrolled at UMP
by: Nor Salwana, Mohammad Idris
Published: (2022)
by: Nor Salwana, Mohammad Idris
Published: (2022)
Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature
by: Lee, Yee-Lin, et al.
Published: (2023)
by: Lee, Yee-Lin, et al.
Published: (2023)
Toyota overtakes GM in global vehicle output
Published: (2008)
Published: (2008)
Variant identification using whole exome sequencing in a family suspected with Iron-refractory Iron Deficiency Anaemia
by: Karuppiah, Thilakavathy, et al.
Published: (2024)
by: Karuppiah, Thilakavathy, et al.
Published: (2024)
Down Syndrome: Development Of A Non-Invasive Prenatal Dna Screening Test Using Superoxide Dismutase 1 Gene In Maternal Blood And Detection Of Cystathionine P-Synthase Gene Mutations
by: Karuppiah, Thilakavathy
Published: (2004)
by: Karuppiah, Thilakavathy
Published: (2004)
Safety and efficacy of pharmacological approaches available for multisystem inflammatory syndrome in children (MIS-C): a systematic review
by: Velusamy, Yasothaa, et al.
Published: (2022)
by: Velusamy, Yasothaa, et al.
Published: (2022)
GM foods and syariah principles: with special reference to GM wheat and soy / Siti Nor Syahidah Ismail, Azfahanim Rajaluddin and Fadzlin Mohd Yunos
by: Ismail, Siti Nor Syahidah, et al.
Published: (2008)
by: Ismail, Siti Nor Syahidah, et al.
Published: (2008)
Effect of combined fraction S1 and GM-H-1 (Citrinin) from Penicillium sp. H9318 on induction of cell cycle arrest and apoptosis in HT-29 cell line
by: Ooi, Suek Chin
Published: (2010)
by: Ooi, Suek Chin
Published: (2010)
4 siblings engineers from UMP
by: Siti Nurfarmy, Ibrahim
Published: (2022)
by: Siti Nurfarmy, Ibrahim
Published: (2022)
Risk analysis of GM crop technology in China: modeling and governance
by: Hong, Jin, et al.
Published: (2013)
by: Hong, Jin, et al.
Published: (2013)
Risk analysis of GM crops technology in China: Modeling and governance
by: Hong, J., et al.
Published: (2011)
by: Hong, J., et al.
Published: (2011)
The need of genetically modified (GM) foods for Malaysia food security
by: Ramli, Noorazlin, et al.
Published: (2011)
by: Ramli, Noorazlin, et al.
Published: (2011)
Investigating the SUMOylation and transcriptional regulation of Nurr1 and the splice variant Nurr-1a
by: Edey, Jade
Published: (2023)
by: Edey, Jade
Published: (2023)
Examining consumer behaviour toward genetically modified (GM) food in Britain
by: Spence, Alexa, et al.
Published: (2006)
by: Spence, Alexa, et al.
Published: (2006)
Anorexia nervosa in the family: a sibling's perspective
by: Withers, A., et al.
Published: (2014)
by: Withers, A., et al.
Published: (2014)
A review: environmental consequences of genetically modified (GM) rice / Norzelawati Muhamad
by: Muhamad, Norzelawati
Published: (2016)
by: Muhamad, Norzelawati
Published: (2016)
Factors that influence acceptance of GM labels on halal food among Muslim consumers
by: Md Rapi, Nurul Razanah, et al.
Published: (2020)
by: Md Rapi, Nurul Razanah, et al.
Published: (2020)
Comparing Delinquents And Non Delinquent Siblings With Regard To Social
by: Keng, Chiam Heng, et al.
Published: (2004)
by: Keng, Chiam Heng, et al.
Published: (2004)
Biochemical analysis of the BTG1 variants associated with Non-Hodgkin’s lymphoma
by: Almasmoum, Hibah
Published: (2017)
by: Almasmoum, Hibah
Published: (2017)
ABCB1 genetic variants in leukemias: current
insights into treatment outcomes
by: Ankathil, Ravindran
Published: (2017)
by: Ankathil, Ravindran
Published: (2017)
ABCB1 genetic variants in leukemias: current insights into treatment outcomes
by: Ankathil, Ravindran
Published: (2017)
by: Ankathil, Ravindran
Published: (2017)
Simple and fast generalized - M (GM) estimator and its application to real data set
by: Habshah Midi,, et al.
Published: (2021)
by: Habshah Midi,, et al.
Published: (2021)
The Influence of Neurexin 1 Gene Variants on Cognitive Ability in Multiplex Schizophrenia Families
by: Wang, Kah Wei
Published: (2017)
by: Wang, Kah Wei
Published: (2017)
The sibling experience: Living with Down syndrome or Rett syndrome in the family
by: Glasson, E., et al.
Published: (2016)
by: Glasson, E., et al.
Published: (2016)
The Effectiveness of a Peer Support Camp for Siblings of Children with Cancer
by: Sidhu, R., et al.
Published: (2006)
by: Sidhu, R., et al.
Published: (2006)
Theory of mind, birth order, and siblings among preschool children.
by: Farhadian, Mokhtar, et al.
Published: (2010)
by: Farhadian, Mokhtar, et al.
Published: (2010)
Working memory in children with
attention deficit hyperactivity disorders
and their siblings
by: Wei, Wee Kok
Published: (2011)
by: Wei, Wee Kok
Published: (2011)
Animal component free medium retains the stability Of hypervariable region 1 (HV1) of mitochondrial DNA of human full term amniotic fluid mesenchymal stem cells
by: Mohd Rawi, Rohayu Izanwati, et al.
Published: (2017)
by: Mohd Rawi, Rohayu Izanwati, et al.
Published: (2017)
Challenges to the adoption of modern crop biotechnology: insights from Indian and Malaysian GM regulatory frameworks
by: Jasdeep Kaur Darsan Singh,, et al.
Published: (2020)
by: Jasdeep Kaur Darsan Singh,, et al.
Published: (2020)
Exploring the impact of sibling relationships on psychosocial well-being ‘The Ties that Bind’
by: Theodorou, Nikoletta
Published: (2012)
by: Theodorou, Nikoletta
Published: (2012)
Bone loss with antiepileptic drug therapy: a twin and sibling study
by: Shiek Ahmad, B., et al.
Published: (2017)
by: Shiek Ahmad, B., et al.
Published: (2017)
Similar Items
-
The Einsiedeln GM Eclogues: 1
by: Kinsella, John
Published: (2016) -
Identification of a novel IGSF1 variant in two Malaysian malesiblings with central hypothyroidism and macroorchidism
by: Lee, Yee Lin, et al.
Published: (2024) -
Identification of a novel IGSF1 variant in two Malaysian malesiblings with central hypothyroidism and macroorchidism
by: Lee, Yee Lin, et al.
Published: (2024) -
Molecular genetics of Dupuytren’s contracture
by: Aissvarya, Shankar, et al.
Published: (2024) -
GM to relaunch Aveo series
Published: (2008)