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Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika. [electronic resource] by
- Carvalho, Alessandra
- Brites, Carlos
- Mochida, Ganeshwaran
- Ventura, Paloma
- Fernandes, Adriana
- Lage, Maria Lúcia
- Taguchi, Tânia
- Brandi, Ivar
- Silva, Alfredo
- Franceschi, Giulia
- Lucena, Pedro
- Lucena, Rita
Producer: 20200106
In:
Brain & development vol. 41
Availability: No items available.
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14.
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A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. [electronic resource] by
- Mochida, Ganeshwaran H
- Mahajnah, Muhammad
- Hill, Anthony D
- Basel-Vanagaite, Lina
- Gleason, Danielle
- Hill, R Sean
- Bodell, Adria
- Crosier, Moira
- Straussberg, Rachel
- Walsh, Christopher A
Producer: 20100114
In:
American journal of human genetics vol. 85
Availability: No items available.
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15.
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Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. [electronic resource] by
- 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, Lihadh
Producer: 20130812
In:
Human mutation vol. 34
Availability: No items available.
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16.
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Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. [electronic resource] by
- 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, Joan M
Producer: 20161025
In:
American journal of medical genetics. Part A vol. 170A
Availability: No items available.
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Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. [electronic resource] by
- Kouprina, Natalay
- Pavlicek, Adam
- Mochida, Ganeshwaran H
- Solomon, Gregory
- Gersch, William
- Yoon, Young-Ho
- Collura, Randall
- Ruvolo, Maryellen
- Barrett, J Carl
- Woods, C Geoffrey
- Walsh, Christopher A
- Jurka, Jerzy
- Larionov, Vladimir
Producer: 20060508
In:
PLoS biology vol. 2
Availability: No items available.
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18.
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Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. [electronic resource] by
- 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, Timothy W
- Bae, Byoung-Il
- Walsh, Christopher A
Producer: 20170726
In:
Neuron vol. 92
Availability: No items available.
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19.
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Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy. [electronic resource] by
- Nakayama, Tojo
- Wu, Jiang
- Galvin-Parton, Patricia
- Weiss, Jody
- Andriola, Mary R
- Hill, R Sean
- Vaughan, Dylan J
- El-Quessny, Malak
- Barry, Brenda J
- Partlow, Jennifer N
- Barkovich, A James
- Ling, Jiqiang
- Mochida, Ganeshwaran H
Producer: 20180510
In:
Human mutation vol. 38
Availability: No items available.
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Developmental and degenerative features in a complicated spastic paraplegia. [electronic resource] by
- Manzini, M Chiara
- Rajab, Anna
- Maynard, Thomas M
- Mochida, Ganeshwaran H
- Tan, Wen-Hann
- Nasir, Ramzi
- Hill, R Sean
- Gleason, Danielle
- Al Saffar, Muna
- Partlow, Jennifer N
- Barry, Brenda J
- Vernon, Mike
- LaMantia, Anthony-Samuel
- Walsh, Christopher A
Producer: 20100514
In:
Annals of neurology vol. 67
Availability: No items available.
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