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Author/Creator Harlalka, Gaurav V.

1. A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees. Issue 2 (25th October 2021)

Authors:
Khan, Kamal; Mehmood, Sarmad; Liu, Chunyu; Siddiqui, Maimoona; Ahmad, Arsalan; Faiz, Belqees Yawar; Chioza, Barry A.; Baple, Emma A.; Ullah, Muhammad I.; Akram, Zaineb; Satti, Humayoon S.; Khan, Raees; Harlalka, Gaurav V.; Jameel, Muhammad; Akram, Talia; Baig, Shahid M.; Crosby, Andrew H.; Hassan...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 2(2022)
Page Start:
498
Record Type:
Journal Article
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2. BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. (7th June 2019)

Authors:
Khan, Shazia; Lin, Siying; Harlalka, Gaurav V.; Ullah, Asmat; Shah, Khadim; Khalid, Sumbul; Mehmood, Sarmad; Hassan, Muhammad Jawad; Ahmad, Wasim; Self, Jay E.; Crosby, Andrew H.; Baple, Emma L.; Gul, Asma
Journal:
Annals of human genetics
Issue:
Volume 83:Number 6(2019:Nov.)
Page Start:
477
Record Type:
Journal Article
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3. Copy number variation of LINGO1 in familial dystonic tremor. (4th February 2019)

Authors:
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; Lango Allen, Hana; Wakeling, Matthew; Chilton, John K.; Baple, Emma L.; Louis, Elan D.; Warner, T...
Journal:
Neurology
Issue:
Volume 5:Number 1(2019)
Page Start:
Record Type:
Journal Article
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4. Delineating the expanding phenotype associated with SCAPER gene mutation. Issue 8 (13th June 2019)

Authors:
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; Moss, Timothy J.; Cheetham, Michael E.; Moore, Anthony T.; Raymond, F. Lucy; Chen, Rui; Baple, ...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 8(2019)
Page Start:
1665
Record Type:
Journal Article
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5. Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia. Issue 11 (30th August 2016)

Authors:
Harlalka, Gaurav V.; McEntagart, Meriel E.; Gupta, Neerja; Skrzypiec, Anna E.; Mucha, Mariusz W.; Chioza, Barry A.; Simpson, Michael A.; Sreekantan‐Nair, Ajith; Pereira, Anthony; Günther, Sven; Jahic, Amir; Modarres, Hamid; Moore‐Barton, Heather; Trembath, Richard C.; Kabra, Madhulika; Baple, Emm...
Journal:
Human mutation
Issue:
Volume 37:Issue 11(2016)
Page Start:
1157
Record Type:
Journal Article
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