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51

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

Mei, Cristina, Fedorenko, Evelina, Amor, David J., Boys, Amber, Hoeflin, Caitlyn, Carew, Peter, Burgess, Trent, Fisher, Simon E., Morgan, Angela T.

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 652 KB

english, 2018

52

Reactive-site-centric chemoproteomics identifies a distinct class of deubiquitinase enzymes

Hewings, David S., Heideker, Johanna, Ma, Taylur P., AhYoung, Andrew P., El Oualid, Farid, Amore, Alessia, Costakes, Gregory T., Kirchhofer, Daniel, Brasher, Bradley, Pillow, Thomas, Popovych, Nataliy

Journal:

Nature Communications

Year:

2018

Language:

english

File:

PDF, 3.18 MB

english, 2018

53

A 12-month study of the hikikomori syndrome of social withdrawal: clinical characterization and different subtypes proposal

Malagón-Amor, Ángeles, Martín, Luis Miguel, Córcoles, David, González, Anna, Bellsolà, Magda, Teo, Alan R., Pérez, Víctor, Bulbena, Antoni, Bergé, Daniel

Journal:

Psychiatry Research

Year:

2018

Language:

english

File:

PDF, 745 KB

english, 2018

54

Population-based genetic carrier screening for cystic fibrosis in Victoria

Archibald, Alison D, Massie, John, Smith, Melanie J, Dalton, Deborah G, du Sart, Desirée, Amor, David J

Journal:

The Medical Journal of Australia

Year:

2014

Language:

english

File:

PDF, 157 KB

english, 2014

55

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David J., Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachd

Journal:

Clinical Epigenetics

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

56

Dynamics of an Infectious Keratoconjunctivitis Outbreak by Mycoplasma conjunctivae on Pyrenean Chamois Rupicapra p. pyrenaica

Arnal, MaríaCruz, Herrero, Juan, de la Fe, Christian, Revilla, Miguel, Prada, Carlos, Martínez-Durán, David, Gómez-Martín, Ángel, Fernández-Arberas, Olatz, Amores, Joaquín, Contreras, Antonio, García-

Journal:

Year:

2013

Language:

english

File:

PDF, 30.81 MB

english, 2013

57

Wednesday, September 26, 2018 1:00 PM – 2:00 PM Spinal Trauma

Greenstein, Alexander S., D'Amore, Taylor, Bernstein, David N., Mesfin, Addisu

Journal:

The Spine Journal

Year:

2018

Language:

english

File:

PDF, 50 KB

english, 2018

58

[IEEE 2018 15th European Radar Conference (EuRAD) - Madrid, Spain (2018.9.26-2018.9.28)] 2018 15th European Radar Conference (EuRAD) - Drone detection feasibility with passive radars

Jarabo-Amores, M. Pilar, Mata-Moya, David, Gomez-del-Hoyo, Pedro J., Barcena-Humanes, J.L., Rosado-Sanz, J., Rey-Maestre, N., Rosa-Zurera, M.

Year:

2018

Language:

english

File:

PDF, 433 KB

english, 2018

59

[Society of Petroleum Engineers SPE Middle East Artificial Lift Conference and Exhibition - Manama, Bahrain (2018-11-28)] SPE Middle East Artificial Lift Conference and Exhibition - ESP Water Injector Well with Injection Pressure Available for Real-Time Monitoring Recovered 30% of Production in Low Producer Wells: Case Study

Cueva, Diego, Jaramillo, Dorian, Villalobos, Jorge Luis, Amores, David, Sotomayor, Alejandro

Language:

english

File:

PDF, 1.98 MB

english

60

In vivo functional assessment of a novel degradable metal and elastomeric scaffold-based tissue engineered heart valve

Coyan, Garrett N., D'Amore, Antonio, Matsumura, Yasumoto, Pedersen, Drake D., Luketich, Samuel K., Shanov, Vesselin, Katz, William E., David, Tirone E., Wagner, William R., Badhwar, Vinay

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2018

Language:

english

File:

PDF, 2.42 MB

english, 2018

61

Speech and Language in Children with Klinefelter Syndrome

St John, Miya, Ponchard, Charlotte, van Reyk, Olivia, Mei, Cristina, Pigdon, Lauren, Amor, David J., Morgan, Angela T.

Journal:

Journal of Communication Disorders

Year:

2019

File:

PDF, 943 KB

2019

62

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

Giudice-Nairn, Peter, Downs, Jenny, Wong, Kingsley, Wilson, Dylan, Ta, Daniel, Gattas, Michael, Amor, David, Thompson, Elizabeth, Kirrali-Borri, Cathy, Ellaway, Carolyn, Leonard, Helen

Journal:

Journal of Paediatrics and Child Health

Year:

2019

Language:

english

File:

PDF, 606 KB

english, 2019

63

Speech and Language in Children with Klinefelter Syndrome

St John, Miya, Ponchard, Charlotte, van Reyk, Olivia, Mei, Cristina, Pigdon, Lauren, Amor, David J., Morgan, Angela T.

Journal:

Journal of Communication Disorders

Year:

2019

Language:

english

File:

PDF, 943 KB

english, 2019

64

Saturation, Reduction, and the Formation of Iron–Manganese Concretions in the Jackson-Frazier Wetland, Oregon

D'Amore, David V., Stewart, Scott R., Huddleston, J. Herbert

Journal:

Soil Science Society of America Journal

Year:

2004

Language:

english

File:

PDF, 579 KB

english, 2004

65

Health of adults aged 22 to 35 years conceived by assisted reproductive technology

Halliday, Jane, Lewis, Sharon, Kennedy, Joanne, Burgner, David P., Juonala, Markus, Hammarberg, Karin, Amor, David J., Doyle, Lex W., Saffery, Richard, Ranganathan, Sarath, Welsh, Liam, Cheung, Michae

Journal:

Fertility and Sterility

Year:

2019

Language:

english

File:

PDF, 238 KB

english, 2019

66

Salmon‐derived nutrient and organic matter fluxes from a coastal catchment in southeast Alaska

Hood, Eran, Fellman, Jason B., Edwards, Rick T., D'Amore, David V., Scott, Durelle

Journal:

Freshwater Biology

Year:

2019

Language:

english

File:

PDF, 881 KB

english, 2019

67

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

Burkardt, Deepika D'Cunha, Zachariou, Anna, Loveday, Chey, Allen, Clare L., Amor, David J., Ardissone, Anna, Banka, Siddharth, Bourgois, Alexia, Coubes, Christine, Cytrynbaum, Cheryl, Faivre, Laurence

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 6.14 MB

english, 2019

68

A quantitative neuropathological assessment of translocator protein expression in multiple sclerosis

Nutma, Erik, Stephenson, Jodie A, Gorter, Rianne P, de Bruin, Joy, Boucherie, Deirdre M, Donat, Cornelius K, Breur, Marjolein, van der Valk, Paul, Matthews, Paul M, Owen, David R, Amor, Sandra

Journal:

Year:

2019

Language:

english

File:

PDF, 1.96 MB

english, 2019

69

[IEEE 2019 27th European Signal Processing Conference (EUSIPCO) - A Coruna, Spain (2019.9.2-2019.9.6)] 2019 27th European Signal Processing Conference (EUSIPCO) - Towards Automatic Glaucoma Assessment: An Encoder-decoder CNN for Retinal Layer Segmentation in Rodent OCT images

Amor, Rocio del, Morales, Sandra, Colomer, Adria n, Mossi, Jose M., Woldbye, David, Klemp, Kristian, Larsen, Michael, Naranjo, Valery

Year:

2019

Language:

english

File:

PDF, 8.23 MB

english, 2019

70

[IEEE 2019 27th European Signal Processing Conference (EUSIPCO) - A Coruna, Spain (2019.9.2-2019.9.6)] 2019 27th European Signal Processing Conference (EUSIPCO) - Generalized Gamma Distribution SAR Sea Clutter Modelling for Oil Spill Candidates Detection

Benito-Ortiz, Mari-Cortes, Mata-Moya, David, Jarabo-Amores, Maria-Pilar, Rey-Maestre, Nerea del, Gomez-del-Hoyo, Pedro-Jose

Year:

2019

Language:

english

File:

PDF, 1.41 MB

english, 2019

71

Big Data Geospatial Processing for Massive Aerial LiDAR Datasets

Deibe, David, Amor, Margarita, Doallo, RamÃ³n

Journal:

Year:

2020

Language:

english

File:

PDF, 6.79 MB

english, 2020

72

Family Features of Social Withdrawal Syndrome (Hikikomori)

MalagÃ³n-Amor, Ãngeles, MartÃn-LÃ³pez, Luis Miguel, CÃ³rcoles, David, GonzÃ¡lez, Anna, BellsolÃ , Magda, Teo, Alan R., Bulbena, Antoni, PÃ©rez, VÃctor, BergÃ©, Daniel

Journal:

Frontiers in Psychiatry

Year:

2020

Language:

english

File:

PDF, 473 KB

english, 2020

73

Preclinical Evaluation of a High-Affinity Sarcophagine-Containing PSMA Ligand for 64 Cu/ 67 Cu-Based Theranostics in Prostate Cancer

Kelly, James M., Ponnala, Shashikanth, Amor-Coarasa, Alejandro, Zia, Nicholas A., Nikolopoulou, Anastasia, Williams, Clarence, Schlyer, David J., DiMagno, Stephen G., Donnelly, Paul S., Babich, John W

Journal:

Molecular Pharmaceutics

Year:

2020

File:

PDF, 510 KB

2020

74

Do PROMIS Physical Function, Pain Interference, and Depression Correlate to the Oswestry Disability Index and Neck Disability Index in Spine Trauma Patients?

Bernstein, David N., Greenstein, Alexander S., DâAmore, Taylor, Mesfin, Addisu

Journal:

Year:

2020

File:

PDF, 548 KB

2020

75

High frequencies of theropod bite marks provide evidence for feeding, scavenging, and possible cannibalism in a stressed Late Jurassic ecosystem

Drumheller, Stephanie K., McHugh, Julia B., Kane, Miriam, Riedel, Anja, DâAmore, Domenic C., Lovelace, David M.

Journal:

Year:

2020

File:

PDF, 3.50 MB

2020

76

The impact of the COVID-19 pandemic on patients with OCD: effects of contamination symptoms and remission state before the quarantine in a preliminary naturalistic study

Davide, Prestia, Andrea, Pozza, Martina, Olcese, Andrea, Escelsior, Davide, Dettore, Mario, Amore

Journal:

Psychiatry Research

Year:

2020

File:

PDF, 740 KB

2020

77

Paleogenetic and morphometric analysis of a Mesolithic individual from Grotta dâOriente: An oldest genetic legacy for the first modern humans in Sicily

Modi, Alessandra, Catalano, Giulio, DâAmore, Giuseppe, Di Marco, Sylvia, Lari, Martina, Sineo, Luca, Caramelli, David

Journal:

Quaternary Science Reviews

Year:

2020

File:

PDF, 1.82 MB

2020

78

Retinal layer segmentation in rodent OCT images: Local intensity profiles & fully convolutional neural networks

Morales, Sandra, Colomer, AdriÃ¡n, Mossi, JosÃ© M., del Amor, RocÃo, Woldbye, David, Klemp, Kristian, Larsen, Michael, Naranjo, Valery

Journal:

Computer Methods and Programs in Biomedicine

Year:

2021

File:

PDF, 68 KB

2021

79

New case of Cole-Carpenter syndrome

Amor, David J., Savarirayan, Ravi, Schneider, Adele S., Bankier, Agnes

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 272 KB

english, 2000

80

Polymicrogyria associated with scalp and limb defects: Variant of Adams-Oliver syndrome

David J. Amor, Richard J. Leventer, Sari Hayllar, Agnes Bankier

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 715 KB

english, 2000

81

Autosomal dominant inheritance of scapuloiliac dysostosis

David J. Amor, Ravi Savarirayan, Agnes Bankier, Fred Jensen, Simon P. Hauser

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 163 KB

english, 2000

82

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness

David J. Amor, Martin B. Delatycki, R.J. McKinlay Gardner, Elsdon Storey

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 134 KB

english, 2001

83

Analysis of CDKN1C in Beckwith Wiedemann Syndrome

Elizabeth Algar, Samantha Brickell, Gillian Deeble, David Amor, Peter Smith

Journal:

Year:

2000

Language:

english

File:

PDF, 359 KB

english, 2000

84

Familial digital arthropathy-brachydactyly

David J. Amor, Coral Tudball, R.J. McKinlay Gardner, Shireen R. Lamandé, John F. Bateman, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 219 KB

english, 2002

85

Intermediate form of ablepharon–macrostomia syndrome with CNS abnormalities

David J. Amor, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 116 KB

english, 2001

86

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

Juan Dong, David Amor, Michael J. Aldred, TingTing Gu, Michael Escamilla, Mary MacDougall

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 233 KB

english, 2005

87

Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3

David J. Amor, Lucille Voullaire, Karen Bentley, Ravi Savarirayan, K.H. Andy Choo

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 237 KB

english, 2005

88

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies

Leisha D. Nolen, David Amor, Ashley Haywood, Luke St. Heaps, Chris Willcock, Marija Mihelec, Patrick Tam, Frank Billson, John Grigg, Greg Peters, Robyn V. Jamieson

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 271 KB

english, 2006

89

Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: A novel syndrome

Tiong Yang Tan, David J. Amor

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 112 KB

english, 2007

90

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?

David J. Coman, Susan M. White, David J. Amor

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 131 KB

english, 2007

91

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2–Xq28

David J. Amor, Hans-Henrik M. Dahl, Melanie Bahlo, Agnes Bankier

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 182 KB

english, 2007

92

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

David Coman, Sonya Bacic, Amber Boys, Duncan B. Sparrow, Sally L. Dunwoodie, Ravi Savarirayan, David J. Amor

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 89 KB

english, 2008

93

Pallister–Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p

Alison Yeung, David Francis, Olivia Giouzeppos, David J. Amor

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 131 KB

english, 2009

94

Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: Two new reports of MOTA syndrome

Alison Yeung, David Amor, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 211 KB

english, 2009

95

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment

Matthew Hunter, Damien Bruno, David J. Amor

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 152 KB

english, 2009

96

Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?

Claudine Rieubland, Anthony D. Holmes, Melody Caramins, Tony Roscioli, David J. Amor

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 87 KB

english, 2011

97

A Staudinger Approach towards Binol-Derived MAP-Type Bidentate P,N Ligands

Peter N. M. Botman, Olivier David, Alessia Amore, Jasper Dinkelaar, Martin T. Vlaar, Kees Goubitz, Jan Fraanje, Henk Schenk, Henk Hiemstra, Jan H. van Maarseveen

Journal:

Angewandte Chemie

Year:

2004

Language:

english

File:

PDF, 154 KB

english, 2004

98

Evidence for the Coexistence of Two Bond-Stretch Isomers in Solution

Amor Rodriguez, Ryan A. Olsen, Nima Ghaderi, David Scheschkewitz, Fook S. Tham, Leonard J. Mueller, Guy Bertrand

Journal:

Angewandte Chemie

Year:

2004

Language:

english

File:

PDF, 170 KB

english, 2004

99

Thermal Valence Isomerization of 2,3-Diborata-1,4-diphosphoniabuta-1,3-dienes to Bicyclo[1.1.0]butanes and Cyclobutane-1,3-diyls

Jean-Baptiste Bourg, Amor Rodriguez, David Scheschkewitz, Heinz Gornitzka, Didier Bourissou, Guy Bertrand

Journal:

Angewandte Chemie

Year:

2007

Language:

english

File:

PDF, 190 KB

english, 2007

100

A Staudinger Approach towards Binol-Derived MAP-Type Bidentate P,N Ligands

Peter N. M. Botman, Olivier David, Alessia Amore, Jasper Dinkelaar, Martin T. Vlaar, Kees Goubitz, Jan Fraanje, Henk Schenk, Henk Hiemstra, Jan H. van Maarseveen

Journal:

Angewandte Chemie International Edition

Year:

2004

Language:

english

File:

PDF, 155 KB

english, 2004