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1

Redesign of an in-market food processor for manufacturing cost reduction using DFMA methodology

Harlalka, Akshay, Naiju, C. D., Janardhanan, Mukund Nilakantan, Nielsen, Izabela

Journal:

Production & Manufacturing Research

Year:

2016

Language:

english

File:

PDF, 2.96 MB

english, 2016

2

Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families.

Arshad, Muhammad Waqar, Harlalka, Gaurav V., Lin, Siying, D'Atri, Ilaria, Mehmood, Sarmad, Shakil, Muhammad, Hassan, Muhammad Jawad, Chioza, Barry A., Self, Jay E., Ennis, Sarah, O'Gorman, Luke, Norma

Journal:

Year:

2018

Language:

english

File:

PDF, 1.46 MB

english, 2018

3

Numerical study of the soil–structure interaction within mining subsidence areas

Olivier Deck, Harlalka Anirudh

Journal:

Computers and Geotechnics

Year:

2010

Language:

english

File:

PDF, 1.95 MB

english, 2010

4

SRRF-stream imaging of optogenetically controlled furrow formation shows localized and coordinated endocytosis and exocytosis mediating membrane remodeling

Castillo-Badillo, Jean A, Bandi, Anoop C, Harlalka, Suyash, Gautam, N.

Journal:

ACS Synthetic Biology

Year:

2020

File:

PDF, 2.56 MB

2020

5

Atypical Flexibility in Dynamic Functional Connectivity Quantifies the Severity in Autism Spectrum Disorder

Harlalka, Vatika, Bapi, Raju S., Vinod, P. K., Roy, Dipanjan

Journal:

Frontiers in Human Neuroscience

Year:

2019

File:

PDF, 1.96 MB

2019

6

In Silico analysis of SIGMAR1 gene causing distal hereditary motor neuropathy in a Pakistani family

Mehmood, Sarmad, Harlalka, Gaurav V., Dad, Rubina, Chioza, Barry A., Ullah, Muhammad I., Ahmad, Arsalan, Crosby, Andrew H., Baple, Emma L., Hassan, Muhammad J.

Journal:

Year:

2019

Language:

english

File:

PDF, 6.51 MB

english, 2019

7

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Ullah, Muhammad Ikram, Nasir, Abdul, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

8

Copy number variation of LINGO1 in familial dystonic tremor

Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine N., Caswell, Richard,

Journal:

Neurology: Genetics

Year:

2019

Language:

english

File:

PDF, 401 KB

english, 2019

9

MNS1 variant associated with situs inversus and male infertility

Leslie, Joseph S., Rawlins, Lettie E., Chioza, Barry A., Olubodun, Oluwaseun R., Salter, Claire G., Fasham, James, Jones, Hannah F., Cross, Harold E., Lam, Simon, Harlalka, Gaurav V., Muggenthaler, Ma

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 803 KB

english, 2019

10

P40 A family with a TRPV4 related neuropathy displays marked phenotypic variability ranging from profound neuromuscular disability to non-penetrance

S. Aharoni, G. Harlalka, A. Offiah, A. Shuper, A.H. Crosby, M. McEntagart

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 42 KB

english, 2011

11

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Harlalka, G. V., Lehman, A., Chioza, B., Baple, E. L., Maroofian, R., Cross, H., Sreekantan-Nair, A., Priestman, D. A., Al-Turki, S., McEntagart, M. E., Proukakis, C., Royle, L., Kozak, R. P., Bastaki

Journal:

Year:

2013

Language:

english

File:

PDF, 642 KB

english, 2013

12

Community detection in large-scale networks: a survey and empirical evaluation

Harenberg, Steve, Bello, Gonzalo, Gjeltema, L., Ranshous, Stephen, Harlalka, Jitendra, Seay, Ramona, Padmanabhan, Kanchana, Samatova, Nagiza

Journal:

Wiley Interdisciplinary Reviews: Computational Statistics

Year:

2014

Language:

english

File:

PDF, 934 KB

english, 2014

13

Mutation of HERC2 causes developmental delay with Angelman-like features

Harlalka, G. V., Baple, E. L., Cross, H., Kuhnle, S., Cubillos-Rojas, M., Matentzoglu, K., Patton, M. A., Wagner, K., Coblentz, R., Ford, D. L., Mackay, D. J. G., Chioza, B. A., Scheffner, M., Rosa, J

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 425 KB

english, 2013

14

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

Khan, Shazia, Rawlins, Lettie E., Harlalka, Gaurav V., Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L., Crosby, Andrew H., Ahmad, Wasim, Gul, Asma

Journal:

BMC Medical Genetics

Year:

2019

File:

PDF, 917 KB

2019

15

[IEEE 2012 International Conference on Computer Communication and Informatics (ICCCI) - Coimbatore, India (2012.01.10-2012.01.12)] 2012 International Conference on Computer Communication and Informatics - Feature extraction using marker based watershed segmentation on the human face

Shylaja, S S, Murthy, K N Balasubramanya, Natarajan, S, Prasad, Anand, Modi, Atul, Harlalka, Sanjay

Year:

2012

Language:

english

File:

PDF, 616 KB

english, 2012

16

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerm

Journal:

Year:

2017

Language:

english

File:

PDF, 7.69 MB

english, 2017

17

Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder

Sharon Aharoni, Gaurav Harlalka, Amaka Offiah, Avinoam Shuper, Andrew H. Crosby, Meriel McEntagart

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 192 KB

english, 2011

18

Atypical Flexibility in Dynamic Functional Connectivity Quantifies the Severity in Autism Spectrum Disorder

Harlalka, Vatika, Bapi, Raju S., Vinod, P. K., Roy, Dipanjan

Journal:

Frontiers in Human Neuroscience

Year:

2019

Language:

english

File:

PDF, 1.96 MB

english, 2019

19

MRKH syndrome: a review of literature

Jain, Nidhi, Kamra, Jyotsna Harlalka

Journal:

International Journal of Reproduction, Contraception, Obstetrics and Gynecology

Year:

2018

Language:

english

File:

PDF, 360 KB

english, 2018

20

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Andrew H. Crosby, Heema Patel, Barry A. Chioza, Christos Proukakis, Kay Gurtz, Michael A. Patton, Reza Sharifi, Gaurav Harlalka, Michael A. Simpson, Katherine Dick, Johanna A. Reed, Ali Al-Memar, Zofi

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 647 KB

english, 2010

21

Novel homozygous missense mutation inGANassociated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

Aharoni, Sharon, Barwick, Katy E. S., Straussberg, Rachel, Harlalka, Gaurav V., Nevo, Yoram, Chioza, Barry A., McEntagart, Meriel M., Mimouni-Bloch, Aviva, Weedon, Michael, Crosby, Andrew H.

Journal:

BMC Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.04 MB

english, 2016

22

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Lin, Siying, Harlalka, Gaurav V., Hameed, Abdul, Reham, Hadia Moattar, Yasin, Muhammad, Muhammad, Noor, Khan, Saadullah, Baple, Emma L., Crosby, Andrew H., Saleha, Shamim

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.64 MB

english, 2018

23

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Ahmed, Mustafa Y., Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A., Pedro Fernandez-Murray, J., Self, Jay E., Salter, Claire G., Harlalka, Gaurav V., Rawlins, Lettie E., Al-

Journal:

Year:

2017

Language:

english

File:

PDF, 514 KB

english, 2017

24

MRKH syndrome: a review of literature

Jain, Nidhi, Kamra, Jyotsna Harlalka

Journal:

International Journal of Reproduction, Contraception, Obstetrics and Gynecology

Year:

2018

File:

PDF, 360 KB

2018

25

Short term efficacy and safety of low dose tolvaptan in patients with acute decompensated heart failure with hyponatremia: a prospective observational pilot study from a single center in South India

Patra, Soumya, Sadananda, KS, Santhosh, K, Rajith, KS, Manjunath, CN, Basappa, Harsha, Bhanuprakash, HM, Kumar, Basant, Harlalka, KaushalH, Jain, Apoorva, Bharathi, KS

Journal:

Year:

2014

Language:

english

File:

PDF, 791 KB

english, 2014

26

Detection of Epileptic Seizure Using Wavelet Analysis based Shannon Entropy, Logarithmic Energy Entropy and Support Vector Machine

Harlalka, Vasudha, Pradip Puntambekar, Viraj, Raviteja, Kalugotla, Mahalakshmi, P.

Journal:

International Journal of Engineering and Technology

Year:

2018

File:

PDF, 392 KB

2018

27

Brief Report Novel Genetic, Clinical and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

Harlalka, Gaurav V., McEntagart, Meriel E., Gupta, Neerja, Skrzypiec, Anna, Mucha, Mariusz, Chioza, Barry A., Simpson, Michael A., Sreekantan-Nair, Ajith, Pereira, Anthony, Günther, Sven, Jahic, Amir,

Journal:

Year:

2016

Language:

english

File:

PDF, 679 KB

english, 2016

28

[IEEE 2017 IEEE International Conference on Power, Control, Signals and Instrumentation Engineering (ICPCSI) - Chennai, India (2017.9.21-2017.9.22)] 2017 IEEE International Conference on Power, Control, Signals and Instrumentation Engineering (ICPCSI) - Optimization of the performance of high speed serial communication

Jadhav, Arun Kumar, Kumar, V Suresh, Harlalka, Khushboo

Year:

2017

File:

PDF, 721 KB

2017

29

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families

Shakil, Muhammad, Harlalka, Gaurav V., Ali, Shamshad, Lin, Siying, D’Atri, Ilaria, Hussain, Shabbir, Nasir, Abdul, Shahzad, Muhammad Aiman, Ullah, Muhammad Ikram, Self, Jay E., Baple, Emma L., Crosby,

Journal:

Year:

2019

Language:

english

File:

PDF, 1.44 MB

english, 2019

30

Copy number variation of LINGO1 in familial dystonic tremor

Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine N., Caswell, Richard,

Journal:

Neurology: Genetics

Year:

2019

File:

PDF, 401 KB

2019

31

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families

Akbar, Abida, Bint‐e‐Farrakh, Muneeba, Crosby, Andrew H, Gul, Asma, Harlalka, Gaurav V

Journal:

Congenital Anomalies

Year:

2019

File:

PDF, 1.59 MB

2019

32

Spectrum of left atrial thrombus in rheumatic heart disease

Mahla, H., Harlalka, K. K., Bhairappa, S., Manjunath, C. N.

Journal:

Year:

2014

File:

PDF, 3.28 MB

2014

33

Age, disease and their interaction effects on intrinsic connectivity of children and adolescents in Autism Spectrum Disorder using functional connectomics

Harlalka, Vatika, Raju, Bapi S., Vinod, P.K., Roy, Dipanjan

Journal:

Brain Connectivity

Year:

2018

Language:

english

File:

PDF, 2.98 MB

english, 2018

34

[IEEE 2020 International Conference on Computational Performance Evaluation (ComPE) - Shillong, India (2020.7.2-2020.7.4)] 2020 International Conference on Computational Performance Evaluation (ComPE) - Inspection of Concrete Structures by a Computer Vision Technique and an Unmanned Aerial Vehicle

Karmokar, Alokita, Jani, Nikhil, Kalla, Anushka, Harlalka, Harsh, Sonar, Poonam

Year:

2020

File:

PDF, 962 KB

2020

35

Has Oxidative Stress any Role on Mechanisms of Aminophylline – Induced Seizures? An Animal Study

Roy, UK, Pal, M, Datta, S, Harlalka, S

Journal:

Kathmandu University Medical Journal

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

36

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

Khan, Shazia, Rawlins, Lettie E., Harlalka, Gaurav V., Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L., Crosby, Andrew H., Ahmad, Wasim, Gul, Asma

Journal:

BMC Medical Genetics

Year:

2019

Language:

english

File:

PDF, 917 KB

english, 2019

37

Delineating the expanding phenotype associated with SCAPER gene mutation

Fasham, James, Arno, Gavin, Lin, Siying, Xu, Mingchu, Carss, Keren J., Hull, Sarah, Lane, Amelia, Robson, Anthony G., Wenger, Olivia, Self, Jay E., Harlalka, Gaurav V., Salter, Claire G., Schema, Lynn

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.35 MB

english, 2019

38

Zinc disc implantation model of urinary bladder calculi and humane endpoints

Singh, P. K., Patil, C. R., Harlalka, G. V., Gaud, N. P.

Journal:

Laboratory Animals

Year:

2010

Language:

english

File:

PDF, 127 KB

english, 2010

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