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Expansion of phenotype of DDX3X syndrome: six new cases. [electronic resource] by
- Beal, Bryony
- Hayes, Ian
- McGaughran, Julie
- Amor, David J
- Miteff, Christina
- Jackson, Victoria
- van Reyk, Olivia
- Subramanian, Gopinath
- Hildebrand, Michael S
- Morgan, Angela T
- Goel, Himanshu
Producer: 20200204
In:
Clinical dysmorphology vol. 28
Availability: No items available.
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13.
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Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. [electronic resource] by
- Kanhangad, Manoj
- Cornett, Kayla
- Brewer, Megan H
- Nicholson, Garth A
- Ryan, Monique M
- Smith, Robert L
- Subramanian, Gopinath M
- Young, Helen K
- Züchner, Stephan
- Kennerson, Marina L
- Burns, Joshua
- Menezes, Manoj P
Producer: 20190805
In:
Neurology vol. 90
Availability: No items available.
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14.
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Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. [electronic resource] by
- Brewer, Megan H
- Chaudhry, Rabia
- Qi, Jessica
- Kidambi, Aditi
- Drew, Alexander P
- Menezes, Manoj P
- Ryan, Monique M
- Farrar, Michelle A
- Mowat, David
- Subramanian, Gopinath M
- Young, Helen K
- Zuchner, Stephan
- Reddel, Stephen W
- Nicholson, Garth A
- Kennerson, Marina L
Producer: 20170327
In:
PLoS genetics vol. 12
Availability: No items available.
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15.
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Neurologic phenotypes associated with [electronic resource] by
- Zagaglia, Sara
- Selch, Christina
- Nisevic, Jelena Radic
- Mei, Davide
- Michalak, Zuzanna
- Hernandez-Hernandez, Laura
- Krithika, S
- Vezyroglou, Katharina
- Varadkar, Sophia M
- Pepler, Alexander
- Biskup, Saskia
- Leão, Miguel
- Gärtner, Jutta
- Merkenschlager, Andreas
- Jaksch, Michaela
- Møller, Rikke S
- Gardella, Elena
- Kristiansen, Britta Schlott
- Hansen, Lars Kjærsgaard
- Vari, Maria Stella
- Helbig, Katherine L
- Desai, Sonal
- Smith-Hicks, Constance L
- Hino-Fukuyo, Naomi
- Talvik, Tiina
- Laugesaar, Rael
- Ilves, Pilvi
- Õunap, Katrin
- Körber, Ingrid
- Hartlieb, Till
- Kudernatsch, Manfred
- Winkler, Peter
- Schimmel, Mareike
- Hasse, Anette
- Knuf, Markus
- Heinemeyer, Jan
- Makowski, Christine
- Ghedia, Sondhya
- Subramanian, Gopinath M
- Striano, Pasquale
- Thomas, Rhys H
- Micallef, Caroline
- Thom, Maria
- Werring, David J
- Kluger, Gerhard Josef
- Cross, J Helen
- Guerrini, Renzo
- Balestrini, Simona
- Sisodiya, Sanjay M
Producer: 20190829
In:
Neurology vol. 91
Availability: No items available.
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