Results
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Phenotypic characteristics of early Wolfram syndrome. [electronic resource] by
- Marshall, Bess A
- Permutt, M Alan
- Paciorkowski, Alexander R
- Hoekel, James
- Karzon, Roanne
- Wasson, Jon
- Viehover, Amy
- White, Neil H
- Shimony, Joshua S
- Manwaring, Linda
- Austin, Paul
- Hullar, Timothy E
- Hershey, Tamara
Producer: 20150330
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. [electronic resource] by
- Sajan, Samin A
- Fernandez, Liliana
- Nieh, Sahar Esmaeeli
- Rider, Eric
- Bukshpun, Polina
- Wakahiro, Mari
- Christian, Susan L
- Rivière, Jean-Baptiste
- Sullivan, Christopher T
- Sudi, Jyotsna
- Herriges, Michael J
- Paciorkowski, Alexander R
- Barkovich, A James
- Glessner, Joseph T
- Millen, Kathleen J
- Hakonarson, Hakon
- Dobyns, William B
- Sherr, Elliott H
Producer: 20140320
In:
PLoS genetics vol. 9
Availability: No items available.
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Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). [electronic resource] by
- Gregory, Allison
- Lotia, Mitesh
- Jeong, Suh Young
- Fox, Rachel
- Zhen, Dolly
- Sanford, Lynn
- Hamada, Jeff
- Jahic, Amir
- Beetz, Christian
- Freed, Alison
- Kurian, Manju A
- Cullup, Thomas
- van der Weijden, Marlous C M
- Nguyen, Vy
- Setthavongsack, Naly
- Garcia, Daphne
- Krajbich, Victoria
- Pham, Thao
- Woltjer, Randy
- George, Benjamin P
- Minks, Kelly Q
- Paciorkowski, Alexander R
- Hogarth, Penelope
- Jankovic, Joseph
- Hayflick, Susan J
Producer: 20200715
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
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Delineation of the movement disorders associated with FOXG1 mutations. [electronic resource] by
- Papandreou, Apostolos
- Schneider, Ruth B
- Augustine, Erika F
- Ng, Joanne
- Mankad, Kshitij
- Meyer, Esther
- McTague, Amy
- Ngoh, Adeline
- Hemingway, Cheryl
- Robinson, Robert
- Varadkar, Sophia M
- Kinali, Maria
- Salpietro, Vincenzo
- O'Driscoll, Margaret C
- Basheer, S Nigel
- Webster, Richard I
- Mohammad, Shekeeb S
- Pula, Shpresa
- McGowan, Marian
- Trump, Natalie
- Jenkins, Lucy
- Elmslie, Frances
- Scott, Richard H
- Hurst, Jane A
- Perez-Duenas, Belen
- Paciorkowski, Alexander R
- Kurian, Manju A
Producer: 20170428
In:
Neurology vol. 86
Availability: No items available.
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. [electronic resource] by
- Tripathy, Ratna
- Leca, Ines
- van Dijk, Tessa
- Weiss, Janneke
- van Bon, Bregje W
- Sergaki, Maria Christina
- Gstrein, Thomas
- Breuss, Martin
- Tian, Guoling
- Bahi-Buisson, Nadia
- Paciorkowski, Alexander R
- Pagnamenta, Alistair T
- Wenninger-Weinzierl, Andrea
- Martinez-Reza, Maria Fernanda
- Landler, Lukas
- Lise, Stefano
- Taylor, Jenny C
- Terrone, Gaetano
- Vitiello, Giuseppina
- Del Giudice, Ennio
- Brunetti-Pierri, Nicola
- D'Amico, Alessandra
- Reymond, Alexandre
- Voisin, Norine
- Bernstein, Jonathan A
- Farrelly, Ellyn
- Kini, Usha
- Leonard, Thomas A
- Valence, Stéphanie
- Burglen, Lydie
- Armstrong, Linlea
- Hiatt, Susan M
- Cooper, Gregory M
- Aldinger, Kimberly A
- Dobyns, William B
- Mirzaa, Ghayda
- Pierson, Tyler Mark
- Baas, Frank
- Chelly, Jamel
- Cowan, Nicholas J
- Keays, David Anthony
Producer: 20190808
In:
Neuron vol. 100
Availability: No items available.
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