Ganeshwaran H. Mochida: search on Z-Library

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1

Genetic Basis of Developmental Malformations of the Cerebral Cortex

Mochida, Ganeshwaran H., Walsh, Christopher A.

Journal:

Archives of Neurology

Year:

2004

Language:

english

File:

PDF, 75 KB

english, 2004

2

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

Anna Rajab, Seung-Yun Yoo, Aiman Abdulgalil, Salem Kathiri, Riaz Ahmed, Ganeshwaran H. Mochida, Adria Bodell, A. James Barkovich, Christopher A. Walsh

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 198 KB

english, 2006

3

Genetics and Biology of Microcephaly and Lissencephaly

Ganeshwaran H. Mochida

Journal:

Seminars in Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 670 KB

english, 2009

4

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel-Vanagaite, Danielle Gleason, R. Sean Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.01 MB

english, 2009

5

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Fowzan S. Alkuraya, Xuyu Cai, Carina Emery, Ganeshwaran H. Mochida, Mohammed S. Al-Dosari, Jillian M. Felie, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Generoso G. Gascon, Amal Kentab, Mohamm

Journal:

The American Journal of Human Genetics

Year:

2011

File:

PDF, 25 KB

2011

6

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Mochida, Ganeshwaran H, Ganesh, Vijay S, de Michelena, Maria I, Dias, Hugo, Atabay, Kutay D, Kathrein, Katie L, Huang, Hsuan-Ting, Hill, R Sean, Felie, Jillian M, Rakiec, Daniel, Gleason, Danielle, Hi

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 1.40 MB

english, 2012

7

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Yu, Timothy W, Mochida, Ganeshwaran H, Tischfield, David J, Sgaier, Sema K, Flores-Sarnat, Laura, Sergi, Consolato M, Topçu, Meral, McDonald, Marie T, Barry, Brenda J, Felie, Jillian M

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 1.46 MB

english, 2010

8

Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM 3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Akawi, Nadia A., Canpolat, Fuat E., White, Susan M., Quilis-Esquerra, Josep, Morales Sanchez, Martin, Gamundi, Maria José, Mochida, Ganeshwaran H., Walsh, Christopher A., Ali, Bassam R., Al-Gazali, Li

Journal:

Year:

2013

Language:

english

File:

PDF, 383 KB

english, 2013

9

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

Anna Rajab, M. Chiara Manzini, Ganeshwaran H. Mochida, Christopher A. Walsh, M. Elizabeth Ross

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 161 KB

english, 2007

10

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Khalil, Raida, Kenny, Connor, Hill, R. Sean, Mochida, Ganeshwaran H., Nasir, Ramzi, Partlow, Jennifer N., Barry, Brenda J., Al-Saffar, Muna, Egan, Chloe, Stevens, Christine R., Gabriel, Stacey B., Bar

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2018

Language:

english

File:

PDF, 1.52 MB

english, 2018

11

Developmental and degenerative features in a complicated spastic paraplegia

M. Chiara Manzini, Anna Rajab, Thomas M. Maynard, Ganeshwaran H. Mochida, Wen-Hann Tan, Ramzi Nasir, R. Sean Hill, Danielle Gleason, Muna Al Saffar, Jennifer N. Partlow, Brenda J. Barry, Mike Vernon,

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 560 KB

english, 2010

12

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

Hu, Wen F., Pomp, Oz, Ben-Omran, Tawfeg, Kodani, Andrew, Henke, Katrin, Mochida, Ganeshwaran H., Yu, Timothy W., Woodworth, Mollie B., Bonnard, Carine, Raj, Grace Selva, Tan, Thong Teck, Hamamy, Hanan

Journal:

Year:

2014

Language:

english

File:

PDF, 6.63 MB

english, 2014

13

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Fowzan S. Alkuraya, Xuyu Cai, Carina Emery, Ganeshwaran H. Mochida, Mohammed S. Al-Dosari, Jillian M. Felie, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Generoso G. Gascon, Amal Kentab, Mohamm

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.25 MB

english, 2011

14

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

Jayaraman, Divya, Kodani, Andrew, Gonzalez, Dilenny M., Mancias, Joseph D., Mochida, Ganeshwaran H., Vagnoni, Cristiana, Johnson, Jeffrey, Krogan, Nevan, Harper, J. Wade, Reiter, Jeremy F., Yu, Timoth

Journal:

Year:

2016

Language:

english

File:

PDF, 5.84 MB

english, 2016

15

Case 27-2014

Cabot, Richard C., Rosenberg, Eric S., Harris, Nancy Lee, Shepard, Jo-Anne O., Cort, Alice M., Ebeling, Sally H., McDonald, Emily K., Sahai, Inderneel, Mochida, Ganeshwaran H., Grabowski, Eric F., Car

Journal:

New England Journal of Medicine

Year:

2014

Language:

english

File:

PDF, 2.00 MB

english, 2014

16

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.38 MB

english, 2014

17

Zika Virus: Learning from the Past as We Prepare for the Future

Mochida, Ganeshwaran H.

Journal:

The Journal of Pediatrics

Year:

2020

File:

PDF, 131 KB

2020

18

Emery and Rimoin's Principles and Practice of Medical Genetics || Genetic Disorders of Cerebral Cortical Development

Mochida, Ganeshwaran H.

Year:

2013

Language:

english

File:

PDF, 976 KB

english, 2013

19

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

Al-Maawali, Almundher, Barry, Brenda J., Rajab, Anna, El-Quessny, Malak, Seman, Ann, Coury, Stephanie Newton, Barkovich, A. James, Yang, Edward, Walsh, Christopher A., Mochida, Ganeshwaran H., Stoler,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 348 KB

english, 2016

20

Neuropsychological Function in a Child with 18p Deletion Syndrome

Willoughby, Brian L., Favero, Marcus, Mochida, Ganeshwaran H., Braaten, Ellen B.

Journal:

Cognitive and Behavioral Neurology

Year:

2014

Language:

english

File:

PDF, 140 KB

english, 2014

21

Molecular genetics of human microcephaly

Mochida, Ganeshwaran H., Walsh, Christopher A.

Journal:

Current Opinion in Neurology

Year:

2001

Language:

english

File:

PDF, 110 KB

english, 2001

22

Studying rare genetic disorders in child neurology - the need for an international network of collaboration

Mochida, Ganeshwaran H, Chugani, Harry

Journal:

Developmental Medicine & Child Neurology

Year:

2014

Language:

english

File:

PDF, 34 KB

english, 2014

23

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Ganeshwaran H. Mochida, Vijay S. Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katie Rose Clapham, Daniel Rakiec, Wen-Hann Tan, Nadia Akawi, Muna Al-Saffar, Jennifer N. Partlow, Sigrid Tin

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 849 KB

english, 2010

24

Posterior Fossa in Primary Microcephaly: Relationships between Forebrain and Mid-Hindbrain Size in 110 Patients

Adachi, Yuko, Mochida, Ganeshwaran, Walsh, Christopher, Barkovich, James

Journal:

Neuropediatrics

Year:

2013

Language:

english

File:

PDF, 288 KB

english, 2013

25

Holoprosencephaly in Kabuki syndrome

Daly, Tara, Roberts, Abra, Yang, Edward, Mochida, Ganeshwaran H., Bodamer, Olaf

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 797 KB

2019

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