Results
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Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome. [electronic resource] by
- Kang, Yilin
- Anderson, Alexander J
- Jackson, Thomas Daniel
- Palmer, Catherine S
- De Souza, David P
- Fujihara, Kenji M
- Stait, Tegan
- Frazier, Ann E
- Clemons, Nicholas J
- Tull, Deidreia
- Thorburn, David R
- McConville, Malcolm J
- Ryan, Michael T
- Stroud, David A
- Stojanovski, Diana
Producer: 20200408
In:
eLife vol. 8
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Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy. [electronic resource] by
- Wang, Hongyang
- Wang, Li
- Yang, Ju
- Yin, Linwei
- Lan, Lan
- Li, Jin
- Zhang, Qiujing
- Wang, Dayong
- Guan, Jing
- Wang, Qiuju
Producer: 20190819
In:
BMC medical genetics vol. 20
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126.
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Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes. [electronic resource] by
- Arai, Takashi
- Zhao, Meina
- Kanegane, Hirokazu
- van Zelm, Menno C
- Futatani, Takeshi
- Yamada, Masafumi
- Ariga, Tadashi
- Ochs, Hans D
- Miyawaki, Toshio
- Oh-ishi, Tsutomu
Producer: 20120125
In:
Journal of human genetics vol. 56
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PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. [electronic resource] by
- Zaki, Maha S
- Heller, Raoul
- Thoenes, Michaela
- Nürnberg, Gudrun
- Stern-Schneider, Gabi
- Nürnberg, Peter
- Karnati, Srikanth
- Swan, Daniel
- Fateen, Ekram
- Nagel-Wolfrum, Kerstin
- Mostafa, Mostafa I
- Thiele, Holger
- Wolfrum, Uwe
- Baumgart-Vogt, Eveline
- Bolz, Hanno J
Producer: 20161018
In:
Human mutation vol. 37
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The syndrome of deafness-dystonia: clinical and genetic heterogeneity. [electronic resource] by
- Kojovic, Maja
- Pareés, Isabel
- Lampreia, Tania
- Pienczk-Reclawowicz, Karolina
- Xiromerisiou, Georgia
- Rubio-Agusti, Ignacio
- Kramberger, Milica
- Carecchio, Miryam
- Alazami, Anas M
- Brancati, Francesco
- Slawek, Jaroslaw
- Pirtosek, Zvezdan
- Valente, Enza Maria
- Alkuraya, Fowzan S
- Edwards, Mark J
- Bhatia, Kailash P
Producer: 20140130
In:
Movement disorders : official journal of the Movement Disorder Society vol. 28
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134.
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The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. [electronic resource] by
- Ha, Ainhi D
- Parratt, Kaitlyn L
- Rendtorff, Nanna D
- Lodahl, Marianne
- Ng, Karl
- Rowe, Dominic B
- Sue, Carolyn M
- Hayes, Michael W
- Tranebjaerg, Lisbeth
- Fung, Victor S C
Producer: 20121121
In:
Movement disorders : official journal of the Movement Disorder Society vol. 27
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. [electronic resource] by
- Zazo Seco, Celia
- Castells-Nobau, Anna
- Joo, Seol-Hee
- Schraders, Margit
- Foo, Jia Nee
- van der Voet, Monique
- Velan, S Sendhil
- Nijhof, Bonnie
- Oostrik, Jaap
- de Vrieze, Erik
- Katana, Radoslaw
- Mansoor, Atika
- Huynen, Martijn
- Szklarczyk, Radek
- Oti, Martin
- Tranebjærg, Lisbeth
- van Wijk, Erwin
- Scheffer-de Gooyert, Jolanda M
- Siddique, Saadat
- Baets, Jonathan
- de Jonghe, Peter
- Kazmi, Syed Ali Raza
- Sadananthan, Suresh Anand
- van de Warrenburg, Bart P
- Khor, Chiea Chuen
- Göpfert, Martin C
- Qamar, Raheel
- Schenck, Annette
- Kremer, Hannie
- Siddiqi, Saima
Producer: 20171204
In:
Disease models & mechanisms vol. 10
Availability: No items available.
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