Researcher
Michael Hildebrand
University of Melbourne
Statistics
103 papers found
Papers authored by Michael Hildebrand
Refreshing results…
and 3 other authors
Evaluation of non-coding variation in GLUT1 deficiency
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Candace T. Myers,
Gemma L. Carvill,
Brigid M. Regan,
John A. Damiano,
Saul A. Mullen,
Mark R. Newton,
Umesh Nair,
Elena V. Gazina,
Carol J. Milligan,
Christopher A. Reid,
Steven Petrou,
Ingrid E. Scheffer,
Samuel F. Berkovic,
Heather C. Mefford
A targeted resequencing gene panel for focal epilepsy
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Nicole G. Griffin,
John A. Damiano,
Elisa J. Cops,
Rosemary Burgess,
Ezgi Ozturk,
Nigel C. Jones,
Richard J. Leventer,
Jeremy L. Freeman,
A. Simon Harvey,
Lynette G. Sadleir,
Ingrid E. Scheffer,
Major Heather,
Benjamin W. Darbro,
Andrew S. Allen
and 4 other authors
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy
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A. Marie Phillips,
A. Marie Phillips,
Saul A. Mullen,
Paul A. Adlard,
Katia Hardies,
John A. Damiano,
Verena Wimmer ,
Susannah T. Bellows,
Jacinta M. McMahon,
Rosemary Burgess,
Rik Hendrickx,
Sarah Weckhuysen,
Arvid Suls,
Peter De Jonghe
and 4 other authors
Loss of synaptic Zn2+ transporter function increases risk of febrile seizures
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Allen C. Simpson,
Robert W. Eppsteiner,
Todd E. Scheetz,
Terry A. Braun,
Patrick L. M. Huygen
and 2 other authors
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Rick Tankard ,
Elena V. Gazina,
Hans‐Henrik M. Dahl,
John A. Damiano,
Kate M. Lawrence,
Renzo Guerrini,
Brigid M. Regan,
Angelo Labate,
Antonio Gambardella,
Aiden Eliot Shearer,
Richard Jh H. Smith,
Laura Lichetta,
Sara Baldassari
and 8 other authors
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
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Karen L. Oliver ,
Hans-Henrik M. Dahl,
A. Eliot Shearer,
Richard J. H. Smith,
Nathan E. Hall,
Khalid Mahmood ,
Richard J. Leventer,
Ingrid E. Scheffer,
Mikko Muona
and 5 other authors
Mutation of the nuclear lamin geneLMNB2in progressive myoclonus epilepsy with early ataxia
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Ingrid E. Scheffer
Myoclonic Occipital Photosensitive Epilepsy with Dystonia (MOPED): A familial epilepsy syndrome
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Paul T. Ranum,
Seiji B. Shibata,
William J. Kimberling
and 1 other authors
HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice
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Samuel F. Berkovic,
Leanne M. Dibbens,
Karen L. Oliver ,
Snezana Maljevic ,
Marta A. Bayly,
Tarja Joensuu,
Laura Canafoglia ,
Silvana Franceschetti,
Roberto Michelucci,
Salla Markkinen,
Sarah E. Heron ,
Michael S. Hildebrand ,
Eva Andermann,
Frederick Andermann
and 37 other authors
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
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Allen Simpson,
E. Ann Black-Ziegelbein,
Swati Joshi,
Harini Ravi,
Angelica C. Giuffre,
Scott Happe,
Michael S. Hildebrand ,
Hela Azaiez,
Yildirim A. Bayazit
and 18 other authors
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K. Mannik,
Sebastien Lebon ,
Brigid M. Regan,
Hans-Henrik M. Dahl,
M. Morzinger,
Hannelore Steinbock,
Martha Feucht,
Birgit Neophytou,
Gabriel M. Ronen,
R. S. Moller,
Laurian Roche,
Ursula Gruber-Sedlmayr
and 100 other authors
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
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GRIN2A mutations cause epilepsy-aphasia spectrum disorders
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Susan Block,
John Damiano,
Michael Fahey,
Sheena Reilly,
Melanie Bahlo,
Ingrid E. Scheffer,
Angela T. Morgan
Small Intragenic Deletion in FOXP2 Associated With Childhood Apraxia of Speech and Dysarthria
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Robert W. Eppsteiner,
Harini Ravi,
Swati Joshi,
Angelica C. Guiffre,
Christina M. Sloan,
Scott Happe,
Susanna D. Howard,
Barbara Novak,
Adam P. DeLuca ,
Kyle R. Taylor,
Todd E. Scheetz
and 5 other authors
Advancing Genetic Testing for Deafness with Genomic Technology
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Qian Dong,
Jeng-Haur Chen,
Thomas O. Moninger,
Jung Min Park,
Yuzhou Zhang,
Jianyang Du,
Michael S. Hildebrand ,
Richard J. H. Smith,
Christoph O. Randak,
David A. Stoltz,
Michael J. Welsh
CFTR-deficient pigs display peripheral nervous system defects at birth
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