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101

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy

McMichael, Gai, Haan, Eric, Gardner, Alison, Yap, Tzu Ying, Thompson, Suzanna, Ouvrier, Robert, Dale, Russell C., Gecz, Jozef, MacLennan, Alastair H.

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 274 KB

english, 2013

102

SPIE Proceedings [SPIE SPIE Astronomical Telescopes + Instrumentation - Amsterdam, Netherlands (Sunday 1 July 2012)] Modern Technologies in Space- and Ground-based Telescopes and Instrumentation II - A new generation active arrays for optical flexibility in astronomical instrumentation

Kroes, G., Navarro, Ramón, Cunningham, Colin R., Jaskó, A., Pragt, J. H., Prieto, Eric, Venema, L., De Haan, M.

Year:

2012

Language:

english

File:

PDF, 5.80 MB

english, 2012

103

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.18 MB

english, 2014

104

Genetic and clinical contributions to cerebral palsy: A multi-variable analysis

O'Callaghan, Michael E, MacLennan, Alastair H, Gibson, Catherine S, McMichael, Gai L, Haan, Eric A, Broadbent, Jessica L, Baghurst, Peter A, Goldwater, Paul N, Dekker, Gustaaf A

Journal:

Journal of Paediatrics and Child Health

Year:

2013

Language:

english

File:

PDF, 117 KB

english, 2013

105

[Part 1: Biological Sciences] || Production and Characterization of Monoclonal Antibodies against the ``Brain-Specific'' Proteins 14-3-2 and S-100

Eric A. Haan, Barbara D. Boss and W. Maxwell Cowan

Journal:

Proceedings of the National Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 1.83 MB

english, 1982

106

Fatigue resistance of the knee extensor muscles is not reduced in post-polio syndrome

Voorn, Eric L., Beelen, Anita, Gerrits, Karin H.L., Nollet, Frans, de Haan, Arnold

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 325 KB

english, 2013

107

Reproductive Technologies and the Risk of Birth Defects

Davies, Michael J., Moore, Vivienne M., Willson, Kristyn J., Van Essen, Phillipa, Priest, Kevin, Scott, Heather, Haan, Eric A., Chan, Annabelle

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 461 KB

english, 2012

108

A simple validated questionnaire predicted functional decline in community-dwelling older persons: prospective cohort studies

Suijker, Jacqueline J., Buurman, Bianca M., van Rijn, Marjon, van Dalen, Marlies T., ter Riet, Gerben, van Geloven, Nan, de Haan, Rob J., Moll van Charante, Eric P., de Rooij, Sophia E.

Journal:

Journal of Clinical Epidemiology

Year:

2014

Language:

english

File:

PDF, 491 KB

english, 2014

109

Living in deprived urban districts increases perinatal health inequalities

de Graaf, Johanna P., Ravelli, Anita C. J., de Haan, Marij A. M., Steegers, Eric A. P., Bonsel, Gouke J.

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Year:

2013

Language:

english

File:

PDF, 675 KB

english, 2013

110

Properties of Succinic Semialdehyde Dehydrogenase in Cultured Human Lymphoblasts

Gibson, Kenneth M., Sweetman, Lawrence, Jansen, Inga, Brown, Garry K., Haan, Eric A., Danks, David M., Nyhan, William L.

Journal:

Journal of Neurogenetics

Year:

1985

Language:

english

File:

PDF, 632 KB

english, 1985

111

Erratum: Zwei-Dreibein Gravity: A Two-Frame-Field Model of 3D Massive Gravity [Phys. Rev. Lett. 111, 111102 (2013)]

Bergshoeff, Eric A., de Haan, Sjoerd, Hohm, Olaf, Merbis, Wout, Townsend, Paul K.

Journal:

Physical Review Letters

Year:

2013

Language:

english

File:

PDF, 30 KB

english, 2013

112

Lamin A/C mutation: An easily missed opportunity

Parnham, Susie, Selvanayagam, Joseph B., Haan, Eric, Heddle, William, De Pasquale, Carmine G.

Journal:

International Journal of Cardiology

Year:

2015

Language:

english

File:

PDF, 808 KB

english, 2015

113

Phenotypes of AKT3 deletion: A case report and literature review

Gai, Dayu, Haan, Eric, Scholar, Matthew, Nicholl, Jillian, Yu, Sui

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 987 KB

english, 2015

114

Three-dimensional tricritical gravity

Bergshoeff, Eric A., de Haan, Sjoerd, Merbis, Wout, Rosseel, Jan, Zojer, Thomas

Journal:

Physical Review D

Year:

2012

Language:

english

File:

PDF, 407 KB

english, 2012

115

Zwei-Dreibein Gravity: A Two-Frame-Field Model of 3D Massive Gravity

Bergshoeff, Eric A., de Haan, Sjoerd, Hohm, Olaf, Merbis, Wout, Townsend, Paul K.

Journal:

Physical Review Letters

Year:

2013

Language:

english

File:

PDF, 107 KB

english, 2013

116

Risk perceptions and knowledge of breast cancer genetics in women at increased risk of developing hereditary breast cancer

Meiser, Bettina, Butow, Phyllis, Barratt, Alexandra, Gattas, Michael, Gaff, Clara, Haan, Eric, Gleeson, Margaret, Dudding, Tracy, Tucker, Katherine

Journal:

Psychology and Health

Year:

2001

Language:

english

File:

PDF, 1.03 MB

english, 2001

117

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

Delatycki, Martin B., Burke, Jo, Christie, Louise, Collins, Felicity, Gabbett, Michael, George, Peter, Haan, Eric, Ioannou, Liane, Martin, Nicole, McKenzie, Fiona, O’Leary, Peter, Scoble-Williams, Nic

Journal:

Twin Research and Human Genetics

Year:

2014

Language:

english

File:

PDF, 105 KB

english, 2014

118

Cognitive deficit and autism spectrum disorders

Nicholl, Jillian, Waters, Wendy, Mulley, John C., Suwalski, Shanna, Brown, Sue, Hull, Yvonne, Barnett, Christopher, Haan, Eric, Thompson, Elizabeth M., Liebelt, Jan, Mcgregor, Lesley, Harbord, Michael

Journal:

Year:

2014

Language:

english

File:

PDF, 127 KB

english, 2014

119

Een gevalideerd screeningsinstrument voorspelt functieverlies bij thuiswonende ouderen: de Identification of Seniors at Risk – Primary Care (ISAR-PC)

Suijker, Jacqueline J., Buurman, Bianca M., van Rijn, Marjon, van Dalen, Marlies T., ter Riet, Gerben, van Geloven, Nan, de Haan, Rob J., van Charante, Eric P. Moll, de Rooij, Sophia E.

Journal:

Tijdschrift voor Gerontologie en Geriatrie

Year:

2015

File:

PDF, 739 KB

2015

120

Preclinical alterations in cardiac energetics amongst sarcomere mutation carriers in hypertrophic cardiomyopathy

Lloyd, Rachael, Grover, Suchi, Parnham, Susie F, Lou, Pey Wen, Bradbrook, Craig, Yeates, Laura, Correnti, Gemma, Haan, Eric, Atherton, John J, Semsarian, Christopher, Selvanayagam, Joseph

Journal:

Journal of Cardiovascular Magnetic Resonance

Year:

2015

Language:

english

File:

PDF, 265 KB

english, 2015

121

Clinical and genetic analysis of a family with two rare reflex epilepsies

Kasteleijn-Nolst Trenité, Dorothée G.A., Volkers, Linda, Strengman, Eric, Schippers, Herman M., Perquin, Willem, de Haan, Gerrit-Jan, Gkountidi, Anastasia O., Slot, Ruben van’t, de Graaf, Stan F., Joc

Journal:

Year:

2015

Language:

english

File:

PDF, 894 KB

english, 2015

122

The Risk of Mortality or Cerebral Palsy in Twins: A Collaborative Population-Based Study

Scher, Ann I, Petterson, Bev, Blair, Eve, Ellenberg, Jonas H, Grether, Judy K, Haan, Eric, Reddihough, Dinah S, Yeargin-Allsopp, Marshalyn, Nelson, Karin B

Journal:

Pediatric Research

Year:

2002

Language:

english

File:

PDF, 269 KB

english, 2002

123

Cytomegalovirus and Epstein–Barr virus may be associated with some cases of cerebral palsy

McMichael, Gai, MacLennan, Alastair, Gibson, Catherine, Alvino, Emily, Goldwater, Paul, Haan, Eric, Dekker, Gustaaf

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Year:

2012

Language:

english

File:

PDF, 564 KB

english, 2012

124

Localization of craniosynostosis Adelaide type to 4p16

Hollway, Georgina E., Phillips, Hilary A., Adès, Lesley C., Haan, Eric A., Mulley, John C.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 279 KB

english, 1995

125

Fetal MBL2 haplotypes combined with viral exposure are associated with adverse pregnancy outcomes

Gibson, Catherine S., Maclennan, Alastair H., Haan, Eric A., Priest, Kevin, Dekker, Gustaaf A.

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Year:

2011

Language:

english

File:

PDF, 252 KB

english, 2011

126

[ACM Press the 2008 ACM symposium - Bordeaux, France (2008.10.27-2008.10.29)] Proceedings of the 2008 ACM symposium on Virtual reality software and technology - VRST '08 - Using the Wii Balance Board#8482; as a low-cost VR interaction device

de Haan, Gerwin, Griffith, Eric J., Post, Frits H.

Year:

2008

Language:

english

File:

PDF, 2.00 MB

english, 2008

127

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome

Shaw, Marie, Yap, Tzu Ying, Henden, Lyndal, Bahlo, Melanie, Gardner, Alison, Kalscheuer, Vera M., Haan, Eric, Christie, Louise, Hackett, Anna, Gecz, Jozef

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 532 KB

english, 2015

128

DOMINANTLY INHERITED CARDIOSKELETAL MYOPATHY WITH LYSOSOMAL GLYCOGEN STORAGE AND NORMAL ACID MALTASE LEVELS

BYRNE, EDWARD, DENNETT, XENIA, CROTTY, BRENDAN, TROUNCE, IAN, SANDS, J. M., HAWKINS, R., HAMMOND, JEREMY, ANDERSON, S., HAAN, ERIC A., POLLARD, A.

Journal:

Year:

1986

Language:

english

File:

PDF, 2.00 MB

english, 1986

129

A BLUE-PRINT FOR PERFORMING PAEDIATRIC PHARMACOLOGICAL RESEARCH

Vermeulen, Eric, Nuytemans, Debbie, de Haan, Timo, Flint, Robert, der Lee, Johanna van

Journal:

Archives of Disease in Childhood

Year:

2016

Language:

english

File:

PDF, 50 KB

english, 2016

130

Location of banks and their credit ratings

van Loon, Eric, de Haan, Jakob

Journal:

The Journal of Risk Finance

Year:

2015

Language:

english

File:

PDF, 156 KB

english, 2015

131

ApoE risk in the Alzheimer’s prevention initiative

Blacker, Deborah, Qian, Jing, Beiser, Alexa S., Haan, Mary, Karlawish, Jason, Langbaum, Jessica B., Reiman, Eric M., Neuhaus, John, Seshadri, Sudha, Tariot, Pierre N., Betensky, Rebecca A.

Journal:

Alzheimer's & Dementia

Year:

2015

Language:

english

File:

PDF, 447 KB

english, 2015

132

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, An

Journal:

Year:

2015

Language:

english

File:

PDF, 230 KB

english, 2015

133

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia

Gray, Belinda, Bagnall, Richard D., Lam, Lien, Ingles, Jodie, Turner, Christian, Haan, Eric, Davis, Andrew, Yang, Pei-Chi, Clancy, Colleen E., Sy, Raymond W., Semsarian, Christopher

Journal:

Year:

2016

Language:

english

File:

PDF, 852 KB

english, 2016

134

Continuous Monitoring of Cerebrospinal Fluid Oxygen Tension in Relation to Motor Evoked Potentials during Spinal Cord Ischemia in Pigs

Lips, Jeroen, de Haan, Peter, Bouma, Gert Joan, Holman, Rebecca, van Dongen, Eric, Kalkman, Cor J.

Journal:

Year:

2005

Language:

english

File:

PDF, 400 KB

english, 2005

135

Corrigendum to “Clinical and genetic analysis of a family with two rare reflex epilepsies” [Seizure – Eur. J. Epilepsy 29 (2015) 90–96]

Trenité, Dorothée G.A. Kasteleijn-Nolst, Volkers, Linda, Strengman, Eric, Schippers, Herman M., Perquin, Willem, de Haan, Gerrit-Jan, Gkountidi, Anastasia O., van’t Slot, Ruben, van de Graaf, Stan F.,

Journal:

Year:

2015

Language:

english

File:

PDF, 167 KB

english, 2015

136

A New Syndrome With Craniosynostosis and Cleft Lip and Palate

Anderson, Peter J., Haan, Eric A., David, David J.

Journal:

Journal of Craniofacial Surgery

Year:

2011

Language:

english

File:

PDF, 502 KB

english, 2011

137

Mental Health Service Use and Outcomes After the Enschede Fireworks Disaster: A Naturalistic Follow-Up Study

Noorthoorn, Eric O., Havenaar, Johan M., de Haan, Hein A., van Rood, Yanda R., van Stiphout, Willy-Anne H. J.

Journal:

Psychiatric Services

Year:

2010

Language:

english

File:

PDF, 88 KB

english, 2010

138

Associations Between Inherited Thrombophilias, Gestational Age, and Cerebral Palsy

Gibson, Catherine S., MacLennan, Alastair H., Hague, William M., Haan, Eric A., Priest, Kevin, Chan, Annabelle, Decker, Gustaaf A.

Journal:

Obstetric and Gynecologic Survey

Year:

2006

Language:

english

File:

PDF, 592 KB

english, 2006

139

Neurotrophic Viruses and Cerebral Palsy: Population Based Case???Control Study

Gibson, Catherine S., Maclennan, Alastair H., Goldwater, Paul N., Haan, Eric A., Priest, Kevin, Dekker, Gustaaf A.

Journal:

Obstetric and Gynecologic Survey

Year:

2006

Language:

english

File:

PDF, 562 KB

english, 2006

140

Reproductive Technologies and the Risk of Birth Defects

Davies, Michael J., Moore, Vivienne M., Willson, Kristyn J., Van Essen, Phillipa, Priest, Kevin, Scott, Heather, Haan, Eric A., Chan, Annabelle

Journal:

Survey of Anesthesiology

Year:

2013

Language:

english

File:

PDF, 301 KB

english, 2013

141

A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia???a diagnostic dilemma

Thong, Meow-Keong, Thompson, Elizabeth, Keenan, Ross, Simmer, Karen, Harbord, Michael, Davidson, Geoffrey, Haan, Eric

Journal:

Clinical Dysmorphology

Year:

1999

File:

PDF, 2.57 MB

1999

142

Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome

Laforest, Caroline, Leibovitch, Igal, Selva, Dinesh, Crompton, John, Haan, Eric

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 187 KB

english, 2008

143

SHORT syndrome: distinctive radiographic features

Haan, Eric, Morris, Lloyd

Journal:

Clinical Dysmorphology

Year:

1998

File:

PDF, 355 KB

1998

144

Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent

Ad??s, Lesley C., Davies, Roger, Haan, Eric A., Holman, Katherine J., Watson, Karen C., Sreetharan, Darsheeka, Cao, Shi-Nian, Milewicz, Dianna M., Bateman, John F., Chiodo, Angelo A., Eccles, Michael,

Journal:

Clinical Dysmorphology

Year:

1999

File:

PDF, 4.75 MB

1999

145

Age range for inclusion affects ascertainment by birth defects registers

Gibson, Catherine S., Scott, Heather, Haan, Eric, Scheil, Wendy

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2016

Language:

english

File:

PDF, 146 KB

english, 2016

146

Autosomal dominant Klippel-Feil anomaly with cleft palate

Thompson, Elizabeth, Haan, Eric, Sheffield, Leslie

Journal:

Clinical Dysmorphology

Year:

1998

File:

PDF, 2.88 MB

1998

147

Reproductive Technologies and the Risk of Birth Defects

Davies, Michael J., Moore, Vivienne M., Willson, Kristyn J., Van Essen, Phillipa, Priest, Kevin, Scott, Heather, Haan, Eric A., Chan, Annabelle

Journal:

Obstetric and Gynecologic Survey

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

148

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures

Crawford, April, Moore, Lynette, Bennett, Gregory, Savarirayan, Ravi, Manton, Nicholas, Khong, Yee, Barnett, Christopher P., Haan, Eric

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 635 KB

english, 2016

149

Is there a Role for Genetic Counselors in Prenatal Paternity Testing? – an Assessment Based on Audit of 13 years of Clinical Experience in South Australia

Riley, Kate E., Salvemini, Hayley, Haan, Eric, Fitzgerald, Lara, Stallard, Kirsty, Borrie, Sarah, Pontikinas, Electra, Baxendale, Anne

Journal:

Journal of Genetic Counseling

Year:

2016

Language:

english

File:

PDF, 425 KB

english, 2016

150

The prevalence of inherited thrombophilias in a Caucasian Australian population

Gibson, Catherine S., MacLennan, Alastair H., Rudzki, Zbigniew, Hague, William M., Haan, Eric A., Sharpe, Phillipa, Priest, Kevin, Chan, Annabelle, Dekker, Gustaaf A., Goldwater, Paul N., Khong, T.Yee

Journal:

Year:

2005

Language:

english

File:

PDF, 65 KB

english, 2005