Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature
© 2016 Wiley Periodicals, Inc. Copy Number Variations (CNVs) comprising the distal 1q region 1q43-q44 are associated with neurological impairments, structural brain disorder, and intellectual disability. Here, we report an extremely rare, de novo case of a 1q43-q44 deletion with an adjacent duplicat...
| Main Authors: | Hemming, I., Forrest, A., Shipman, P., Woodward, K., Walsh, P., Ravine, D., Heng, Julian |
|---|---|
| Format: | Journal Article |
| Published: |
Wiley
2016
|
| Online Access: | http://hdl.handle.net/20.500.11937/72859 |
Similar Items
On equation x^q=a over Q_p
by: Mukhamedov, Farrukh, et al.
Published: (2013)
by: Mukhamedov, Farrukh, et al.
Published: (2013)
The determinants of Malaysia government bond yields from year 1996:q1 to 2013:q4
by: Lau, Shu Yee, et al.
Published: (2014)
by: Lau, Shu Yee, et al.
Published: (2014)
Macroeconomic determinants of Malaysian housing price: evidence from 2010Q1 - 2017Q3
by: Chong, Jing Wen, et al.
Published: (2019)
by: Chong, Jing Wen, et al.
Published: (2019)
Determinants of economic growth: the evidence of Singapore (Q12003-Q42014)
by: Khoo, Hui Keng, et al.
Published: (2015)
by: Khoo, Hui Keng, et al.
Published: (2015)
On q-statistical approximation of wavelets aided Kantorovich q-Baskakov operators
by: Ayman-Mursaleen, Mohammad, et al.
Published: (2024)
by: Ayman-Mursaleen, Mohammad, et al.
Published: (2024)
The physics of Q-balls
by: Tsumagari, Mitsuo
Published: (2009)
by: Tsumagari, Mitsuo
Published: (2009)
Charge-swapping Q balls
by: Copeland, Edmund J., et al.
Published: (2014)
by: Copeland, Edmund J., et al.
Published: (2014)
Q methodology and rural research
by: Previte, J., et al.
Published: (2007)
by: Previte, J., et al.
Published: (2007)
UUM lancar Bulan Q
Published: (2009)
Published: (2009)
Search for a heavy resonance decaying into a Z boson and a vector boson in the νν¯ q q ¯ final state
by: Sirunyan, A. M., et al.
Published: (2018)
by: Sirunyan, A. M., et al.
Published: (2018)
A Study On Q Chart For Short Runs
by: Moslim, Nor Hafizah
Published: (2009)
by: Moslim, Nor Hafizah
Published: (2009)
qPCR analysis of quorum sensing genes of pseudomonas aeruginosa: Primer design and qPCR efficiency
by: Saiedatul Akmal, Mohamed Sedek, et al.
Published: (2023)
by: Saiedatul Akmal, Mohamed Sedek, et al.
Published: (2023)
Decomposition of fréchet Q lmc*- algebra
by: Azram, Mohammad
Published: (2015)
by: Azram, Mohammad
Published: (2015)
Important considerations in qRT-PCR
by: Phang, Ing Chia
Published: (2011)
by: Phang, Ing Chia
Published: (2011)
PERMATA Q penanda aras kurikulum
by: Rajagopal, Magendran
Published: (2017)
by: Rajagopal, Magendran
Published: (2017)
Loss of heterozygosity on chromosomes 10q, 9p, 17p and 13q in malays with malignant glioma.
by: Zainuddin, Norafiza, et al.
Published: (2004)
by: Zainuddin, Norafiza, et al.
Published: (2004)
A genome wide study of copy number variation associated with nasopharyngeal carcinoma in Malaysian Chinese identifies CNVs at 11q14.3 and 6p21.3 as candidate loci
by: Low, Joyce Siew Yong, et al.
Published: (2016)
by: Low, Joyce Siew Yong, et al.
Published: (2016)
e-Pocket Statistik Perpustakaan UiTM: Sukuan pertama (Q1) 2024
by: Mohamad, Nor Azwani
Published: (2024)
by: Mohamad, Nor Azwani
Published: (2024)
Solvability of cubic equations over Q3
by: Saburov, Mansoor, et al.
Published: (2015)
by: Saburov, Mansoor, et al.
Published: (2015)
Graphene in chitin based passive Q-switcher
by: Zuikafly, Siti Nur Fatin, et al.
Published: (2019)
by: Zuikafly, Siti Nur Fatin, et al.
Published: (2019)
Realising the potential of Q methodology in nursing research
by: Lim, Eric, et al.
Published: (2020)
by: Lim, Eric, et al.
Published: (2020)
Solvability of cubic equations over Q3
by: Mansoor Saburov,, et al.
Published: (2015)
by: Mansoor Saburov,, et al.
Published: (2015)
An application of q-calculus to harmonic univalent functions
by: Saurabh Porwal,, et al.
Published: (2018)
by: Saurabh Porwal,, et al.
Published: (2018)
Controller design based on Q-Parameterization method
by: Mohamad, Hussein Suleiman
Published: (2007)
by: Mohamad, Hussein Suleiman
Published: (2007)
School Staff’s Viewpoints of Supervision: A Q-Methodological Study
by: Beech, Kirsty
Published: (2021)
by: Beech, Kirsty
Published: (2021)
Feel-It: An Intelligent Secondary School Physics Q&A System
by: Fong, Kwong Seng, et al.
Published: (2016)
by: Fong, Kwong Seng, et al.
Published: (2016)
On a system of q-modified Laplace transform and its applications
by: Kilicman, Adem, et al.
Published: (2021)
by: Kilicman, Adem, et al.
Published: (2021)
On the categories of L-Valued and Q-Valued deterministic fuzzy automata
by: Dubey, M. K., et al.
Published: (2021)
by: Dubey, M. K., et al.
Published: (2021)
On p-Adic quasi Gibbs Measures for q+1-state Potts model on the cayley tree
by: Mukhamedov, Farrukh
Published: (2010)
by: Mukhamedov, Farrukh
Published: (2010)
“E-fatwā” a comparative analysis of islamonline and islam q&a
by: Yusuf, Badmas Abdulhameed, et al.
Published: (2017)
by: Yusuf, Badmas Abdulhameed, et al.
Published: (2017)
Search for massive resonances decaying into WW, WZ, ZZ, qW, and qZ with dijet final states at s =13 TeV
by: Sirunyan, A. M., et al.
Published: (2018)
by: Sirunyan, A. M., et al.
Published: (2018)
The determinants of household debts in Malaysia during the period of: Q3 2009 to Q4 2016 / Muhamad Hateem Khan Ayob Khan
by: Ayob Khan, Muhamad Hateem Khan
Published: (2017)
by: Ayob Khan, Muhamad Hateem Khan
Published: (2017)
Correction and compensation of I/Q imbalance and multipath channel
by: Haq, Khandker Nadya
Published: (2015)
by: Haq, Khandker Nadya
Published: (2015)
The number of solutions of cubic equations over Q3
by: Saburov, Mansoor, et al.
Published: (2015)
by: Saburov, Mansoor, et al.
Published: (2015)
Headteachers' views on inclusion: an exploration using Q-methodology
by: Frater, Matthew
Published: (2021)
by: Frater, Matthew
Published: (2021)
Biochemical analysis of Hel308 and HelQ helicases
by: Buckley, Ryan J.
Published: (2017)
by: Buckley, Ryan J.
Published: (2017)
An investigation on thermoelastic damping of high-Q ring resonators
by: Hossain, Syed T., et al.
Published: (2016)
by: Hossain, Syed T., et al.
Published: (2016)
The analytic process of Q methodology / Siti Maftuhah Damio
by: Damio, Siti Maftuhah
Published: (2018)
by: Damio, Siti Maftuhah
Published: (2018)
The number of solutions of cubic equations over Q3
by: Mansoor Saburov,, et al.
Published: (2015)
by: Mansoor Saburov,, et al.
Published: (2015)
The molecular annealing mechanisms of H. sapiens HelQ
by: Lou-Hing, Anna
Published: (2024)
by: Lou-Hing, Anna
Published: (2024)
Similar Items
-
On equation x^q=a over Q_p
by: Mukhamedov, Farrukh, et al.
Published: (2013) -
The determinants of Malaysia government bond yields from year 1996:q1 to 2013:q4
by: Lau, Shu Yee, et al.
Published: (2014) -
Macroeconomic determinants of Malaysian housing price: evidence from 2010Q1 - 2017Q3
by: Chong, Jing Wen, et al.
Published: (2019) -
Determinants of economic growth: the evidence of Singapore (Q12003-Q42014)
by: Khoo, Hui Keng, et al.
Published: (2015) -
On q-statistical approximation of wavelets aided Kantorovich q-Baskakov operators
by: Ayman-Mursaleen, Mohammad, et al.
Published: (2024)