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21.
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CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. [electronic resource] by
- Souzeau, Emmanuelle
- Hayes, Melanie
- Ruddle, Jonathan B
- Elder, James E
- Staffieri, Sandra E
- Kearns, Lisa S
- Mackey, David A
- Zhou, Tiger
- Ridge, Bronwyn
- Burdon, Kathryn P
- Dubowsky, Andrew
- Craig, Jamie E
Producer: 20150911
In:
Molecular vision vol. 21
Availability: No items available.
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22.
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Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations. [electronic resource] by
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- Clark, J Benedict
- McLeod, Janet L
- Kirkland, Mark A
- Grant, Glenys
- Elder, James E
- Toohey, Michael G
- Kowal, Lionel
- Savoia, Helen F
- Chen, Celia
- Roberts, Sarah
- Wirth, M Gabriela
- Mackey, David A
Producer: 20040105
In:
Archives of ophthalmology (Chicago, Ill. : 1960) vol. 121
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High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia. [electronic resource] by
- Javadiyan, Shari
- Craig, Jamie E
- Souzeau, Emmanuelle
- Sharma, Shiwani
- Lower, Karen M
- Mackey, David A
- Staffieri, Sandra E
- Elder, James E
- Taranath, Deepa
- Straga, Tania
- Black, Joanna
- Pater, John
- Casey, Theresa
- Hewitt, Alex W
- Burdon, Kathryn P
Producer: 20180604
In:
G3 (Bethesda, Md.) vol. 7
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Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. [electronic resource] by
- Shaaban, Sherin
- MacKinnon, Sarah
- Andrews, Caroline
- Staffieri, Sandra E
- Maconachie, Gail D E
- Chan, Wai-Man
- Whitman, Mary C
- Morton, Sarah U
- Yazar, Seyhan
- MacGregor, Stuart
- Elder, James E
- Traboulsi, Elias I
- Gottlob, Irene
- Hewitt, Alex W
- Hunter, David G
- Mackey, David A
- Engle, Elizabeth C
Producer: 20190405
In:
Investigative ophthalmology & visual science vol. 59
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25.
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Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss. [electronic resource] by
- Souzeau, Emmanuelle
- Hayes, Melanie
- Zhou, Tiger
- Siggs, Owen M
- Ridge, Bronwyn
- Awadalla, Mona S
- Smith, James E H
- Ruddle, Jonathan B
- Elder, James E
- Mackey, David A
- Hewitt, Alex W
- Healey, Paul R
- Goldberg, Ivan
- Morgan, William H
- Landers, John
- Dubowsky, Andrew
- Burdon, Kathryn P
- Craig, Jamie E
Producer: 20150922
In:
JAMA ophthalmology vol. 133
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26.
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Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. [electronic resource] by
- Siggs, Owen M
- Souzeau, Emmanuelle
- Taranath, Deepa A
- Dubowsky, Andrew
- Chappell, Angela
- Zhou, Tiger
- Javadiyan, Shari
- Nicholl, Jillian
- Kearns, Lisa S
- Staffieri, Sandra E
- Narita, Andrew
- Smith, James E H
- Pater, John
- Hewitt, Alex W
- Ruddle, Jonathan B
- Elder, James E
- Mackey, David A
- Burdon, Kathryn P
- Craig, Jamie E
Producer: 20201211
In:
Ophthalmology vol. 127
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27.
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Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma. [electronic resource] by
- Siggs, Owen M
- Souzeau, Emmanuelle
- Pasutto, Francesca
- Dubowsky, Andrew
- Smith, James E H
- Taranath, Deepa
- Pater, John
- Rait, Julian L
- Narita, Andrew
- Mauri, Lucia
- Del Longo, Alessandra
- Reis, André
- Chappell, Angela
- Kearns, Lisa S
- Staffieri, Sandra E
- Elder, James E
- Ruddle, Jonathan B
- Hewitt, Alex W
- Burdon, Kathryn P
- Mackey, David A
- Craig, Jamie E
Producer: 20200213
In:
JAMA ophthalmology vol. 137
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28.
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Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants. [electronic resource] by
- Souzeau, Emmanuelle
- Siggs, Owen M
- Zhou, Tiger
- Galanopoulos, Anna
- Hodson, Trevor
- Taranath, Deepa
- Mills, Richard A
- Landers, John
- Pater, John
- Smith, James E
- Elder, James E
- Rait, Julian L
- Giles, Paul
- Phakey, Vivek
- Staffieri, Sandra E
- Kearns, Lisa S
- Dubowsky, Andrew
- Mackey, David A
- Hewitt, Alex W
- Ruddle, Jonathan B
- Burdon, Kathryn P
- Craig, Jamie E
Publication details: European journal of human genetics : EJHG 11 2017
In:
European journal of human genetics : EJHG vol. 25
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29.
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Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants. [electronic resource] by
- Souzeau, Emmanuelle
- Siggs, Owen M
- Zhou, Tiger
- Galanopoulos, Anna
- Hodson, Trevor
- Taranath, Deepa
- Mills, Richard A
- Landers, John
- Pater, John
- Smith, James E
- Elder, James E
- Rait, Julian L
- Giles, Paul
- Phakey, Vivek
- Staffieri, Sandra E
- Kearns, Lisa S
- Dubowsky, Andrew
- Mackey, David A
- Hewitt, Alex W
- Ruddle, Jonathan B
- Burdon, Kathryn P
- Craig, Jamie E
Producer: 20170928
In:
European journal of human genetics : EJHG vol. 25
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Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. [electronic resource] by
- Burdon, Kathryn P
- McKay, James D
- Sale, Michèle M
- Russell-Eggitt, Isabelle M
- Mackey, David A
- Wirth, M Gabriela
- Elder, James E
- Nicoll, Alan
- Clarke, Michael P
- FitzGerald, Liesel M
- Stankovich, James M
- Shaw, Marie A
- Sharma, Shiwani
- Gajovic, Srecko
- Gruss, Peter
- Ross, Shelley
- Thomas, Paul
- Voss, Anne K
- Thomas, Tim
- Gécz, Jozef
- Craig, Jamie E
Producer: 20040819
In:
American journal of human genetics vol. 73
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Global Retinoblastoma Presentation and Analysis by National Income Level. [electronic resource] by
- Fabian, Ido Didi
- Abdallah, Elhassan
- Abdullahi, Shehu U
- Abdulqader, Rula A
- Adamou Boubacar, Sahadatou
- Ademola-Popoola, Dupe S
- Adio, Adedayo
- Afshar, Armin R
- Aggarwal, Priyanka
- Aghaji, Ada E
- Ahmad, Alia
- Akib, Marliyanti N R
- Al Harby, Lamis
- Al Ani, Mouroge H
- Alakbarova, Aygun
- Portabella, Silvia Alarcón
- Al-Badri, Safaa A F
- Alcasabas, Ana Patricia A
- Al-Dahmash, Saad A
- Alejos, Amanda
- Alemany-Rubio, Ernesto
- Alfa Bio, Amadou I
- Alfonso Carreras, Yvania
- Al-Haddad, Christiane
- Al-Hussaini, Hamoud H Y
- Ali, Amany M
- Alia, Donjeta B
- Al-Jadiry, Mazin F
- Al-Jumaily, Usama
- Alkatan, Hind M
- All-Eriksson, Charlotta
- Al-Mafrachi, Ali A R M
- Almeida, Argentino A
- Alsawidi, Khalifa M
- Al-Shaheen, Athar A S M
- Al-Shammary, Entissar H
- Amiruddin, Primawita O
- Antonino, Romanzo
- Astbury, Nicholas J
- Atalay, Hatice T
- Atchaneeyasakul, La-Ongsri
- Atsiaya, Rose
- Attaseth, Taweevat
- Aung, Than H
- Ayala, Silvia
- Baizakova, Baglan
- Balaguer, Julia
- Balayeva, Ruhengiz
- Balwierz, Walentyna
- Barranco, Honorio
- Bascaran, Covadonga
- Beck Popovic, Maja
- Benavides, Raquel
- Benmiloud, Sarra
- Bennani Guebessi, Nissrine
- Berete, Rokia C
- Berry, Jesse L
- Bhaduri, Anirban
- Bhat, Sunil
- Biddulph, Shelley J
- Biewald, Eva M
- Bobrova, Nadia
- Boehme, Marianna
- Boldt, H C
- Bonanomi, Maria Teresa B C
- Bornfeld, Norbert
- Bouda, Gabrielle C
- Bouguila, Hédi
- Boumedane, Amaria
- Brennan, Rachel C
- Brichard, Bénédicte G
- Buaboonnam, Jassada
- Calderón-Sotelo, Patricia
- Calle Jara, Doris A
- Camuglia, Jayne E
- Cano, Miriam R
- Capra, Michael
- Cassoux, Nathalie
- Castela, Guilherme
- Castillo, Luis
- Català-Mora, Jaume
- Chantada, Guillermo L
- Chaudhry, Shabana
- Chaugule, Sonal S
- Chauhan, Argudit
- Chawla, Bhavna
- Chernodrinska, Violeta S
- Chiwanga, Faraja S
- Chuluunbat, Tsengelmaa
- Cieslik, Krzysztof
- Cockcroft, Ruellyn L
- Comsa, Codruta
- Correa, Zelia M
- Correa Llano, Maria G
- Corson, Timothy W
- Cowan-Lyn, Kristin E
- Csóka, Monika
- Cui, Xuehao
- Da Gama, Isac V
- Dangboon, Wantanee
- Das, Anirban
- Das, Sima
- Davanzo, Jacquelyn M
- Davidson, Alan
- De Potter, Patrick
- Delgado, Karina Q
- Demirci, Hakan
- Desjardins, Laurence
- Diaz Coronado, Rosdali Y
- Dimaras, Helen
- Dodgshun, Andrew J
- Donaldson, Craig
- Donato Macedo, Carla R
- Dragomir, Monica D
- Du, Yi
- Du Bruyn, Magritha
- Edison, Kemala S
- Eka Sutyawan, I Wayan
- El Kettani, Asmaa
- Elbahi, Amal M
- Elder, James E
- Elgalaly, Dina
- Elhaddad, Alaa M
- Elhassan, Moawia M Ali
- Elzembely, Mahmoud M
- Essuman, Vera A
- Evina, Ted Grimbert A
- Fadoo, Zehra
- Fandiño, Adriana C
- Faranoush, Mohammad
- Fasina, Oluyemi
- Fernández, Delia D P G
- Fernández-Teijeiro, Ana
- Foster, Allen
- Frenkel, Shahar
- Fu, Ligia D
- Fuentes-Alabi, Soad L
- Gallie, Brenda L
- Gandiwa, Moira
- Garcia, Juan L
- García Aldana, David
- Gassant, Pascale Y
- Geel, Jennifer A
- Ghassemi, Fariba
- Girón, Ana V
- Gizachew, Zelalem
- Goenz, Marco A
- Gold, Aaron S
- Goldberg-Lavid, Maya
- Gole, Glen A
- Gomel, Nir
- Gonzalez, Efren
- Gonzalez Perez, Graciela
- González-Rodríguez, Liudmira
- Garcia Pacheco, Henry N
- Graells, Jaime
- Green, Liz
- Gregersen, Pernille A
- Grigorovski, Nathalia D A K
- Guedenon, Koffi M
- Gunasekera, D Sanjeeva
- Gündüz, Ahmet K
- Gupta, Himika
- Gupta, Sanjiv
- Hadjistilianou, Theodora
- Hamel, Patrick
- Hamid, Syed A
- Hamzah, Norhafizah
- Hansen, Eric D
- Harbour, J William
- Hartnett, M Elizabeth
- Hasanreisoglu, Murat
- Hassan, Sadiq
- Hassan, Shadab
- Hederova, Stanislava
- Hernandez, Jose
- Hernandez, Lorelay Marie Carcamo
- Hessissen, Laila
- Hordofa, Diriba F
- Huang, Laura C
- Hubbard, G B
- Hummlen, Marlies
- Husakova, Kristina
- Hussein Al-Janabi, Allawi N
- Ida, Russo
- Ilic, Vesna R
- Jairaj, Vivekaraj
- Jeeva, Irfan
- Jenkinson, Helen
- Ji, Xunda
- Jo, Dong Hyun
- Johnson, Kenneth P
- Johnson, William J
- Jones, Michael M
- Kabesha, Theophile B Amani
- Kabore, Rolande L
- Kaliki, Swathi
- Kalinaki, Abubakar
- Kantar, Mehmet
- Kao, Ling-Yuh
- Kardava, Tamar
- Kebudi, Rejin
- Kepak, Tomas
- Keren-Froim, Naama
- Khan, Zohora J
- Khaqan, Hussain A
- Khauv, Phara
- Kheir, Wajiha J
- Khetan, Vikas
- Khodabande, Alireza
- Khotenashvili, Zaza
- Kim, Jonathan W
- Kim, Jeong Hun
- Kiratli, Hayyam
- Kivelä, Tero T
- Klett, Artur
- Komba Palet, Jess Elio Kosh
- Krivaitiene, Dalia
- Kruger, Mariana
- Kulvichit, Kittisak
- Kuntorini, Mayasari W
- Kyara, Alice
- Lachmann, Eva S
- Lam, Carol P S
- Lam, Geoffrey C
- Larson, Scott A
- Latinovic, Slobodanka
- Laurenti, Kelly D
- Le, Bao Han A
- Lecuona, Karin
- Leverant, Amy A
- Li, Cairui
- Limbu, Ben
- Long, Quah Boon
- López, Juan P
- Lukamba, Robert M
- Lumbroso, Livia
- Luna-Fineman, Sandra
- Lutfi, Delfitri
- Lysytsia, Lesia
- Magrath, George N
- Mahajan, Amita
- Majeed, Abdul Rahim
- Maka, Erika
- Makan, Mayuri
- Makimbetov, Emil K
- Manda, Chatonda
- Martín Begue, Nieves
- Mason, Lauren
- Mason, John O
- Matende, Ibrahim O
- Materin, Miguel
- Mattosinho, Clarissa C D S
- Matua, Marchelo
- Mayet, Ismail
- Mbumba, Freddy B
- McKenzie, John D
- Medina-Sanson, Aurora
- Mehrvar, Azim
- Mengesha, Aemero A
- Menon, Vikas
- Mercado, Gary John V D
- Mets, Marilyn B
- Midena, Edoardo
- Mishra, Divyansh K C
- Mndeme, Furahini G
- Mohamedani, Ahmed A
- Mohammad, Mona T
- Moll, Annette C
- Montero, Margarita M
- Morales, Rosa A
- Moreira, Claude
- Mruthyunjaya, Prithvi
- Msina, Mchikirwa S
- Msukwa, Gerald
- Mudaliar, Sangeeta S
- Muma, Kangwa I
- Munier, Francis L
- Murgoi, Gabriela
- Murray, Timothy G
- Musa, Kareem O
- Mushtaq, Asma
- Mustak, Hamzah
- Muyen, Okwen M
- Naidu, Gita
- Nair, Akshay Gopinathan
- Naumenko, Larisa
- Ndoye Roth, Paule Aïda
- Nency, Yetty M
- Neroev, Vladimir
- Ngo, Hang
- Nieves, Rosa M
- Nikitovic, Marina
- Nkanga, Elizabeth D
- Nkumbe, Henry
- Nuruddin, Murtuza
- Nyaywa, Mutale
- Obono-Obiang, Ghislaine
- Oguego, Ngozi C
- Olechowski, Andrzej
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- Ossandon, Diego
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- Pagarra, Halimah
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- Paiva, Luisa
- Pal, Bikramjit P
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- Parrozzani, Raffaele
- Parulekar, Manoj
- Pascual Morales, Claudia R
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- Pawinska-Wasikowska, Katarzyna
- Pe'er, Jacob
- Peña, Armando
- Peric, Sanja
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- Philbert, Remezo
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- Polania, Rodrigo A
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- Prom, Vireak
- Purwanto, Ignatius
- Qadir, Ali O
- Qayyum, Seema
- Qian, Jiang
- Rahman, Ardizal
- Rahman, Salman
- Rahmat, Jamalia
- Rajkarnikar, Purnima
- Ramanjulu, Rajesh
- Ramasubramanian, Aparna
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- Raobela, Léa
- Rashid, Riffat
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- Ribadu, Dahiru
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- Sabhan, Ahmed H
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- Saiju, Rohit
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- San Román Pacheco, Sonsoles
- Sánchez, Gissela L
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- Schoeman, Judy
- Sedaghat, Ahad
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- Shakoor, Shawkat A
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- Shetye, Nandan G
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- Sidi Cheikh, Sidi
- Silva, Sónia
- Singh, Arun D
- Singh, Niharika
- Singh, Usha
- Singha, Penny
- Sitorus, Rita S
- Skalet, Alison H
- Soebagjo, Hendrian D
- Sorochynska, Tetyana
- Ssali, Grace
- Stacey, Andrew W
- Staffieri, Sandra E
- Stahl, Erin D
- Stathopoulos, Christina
- Stirn Kranjc, Branka
- Stones, David K
- Strahlendorf, Caron
- Suarez, Maria Estela Coleoni
- Sultana, Sadia
- Sun, Xiantao
- Sundy, Meryl
- Superstein, Rosanne
- Supriyadi, Eddy
- Surukrattanaskul, Supawan
- Suzuki, Shigenobu
- Svojgr, Karel
- Sylla, Fatoumata
- Tamamyan, Gevorg
- Tan, Deborah
- Tandili, Alketa
- Tarrillo Leiva, Fanny F
- Tashvighi, Maryam
- Tateshi, Bekim
- Tehuteru, Edi S
- Teixeira, Luiz F
- Teh, Kok Hoi
- Theophile, Tuyisabe
- Toledano, Helen
- Trang, Doan L
- Traoré, Fousseyni
- Trichaiyaporn, Sumalin
- Tuncer, Samuray
- Tyau-Tyau, Harba
- Umar, Ali B
- Unal, Emel
- Uner, Ogul E
- Urbak, Steen F
- Ushakova, Tatiana L
- Usmanov, Rustam H
- Valeina, Sandra
- van Hoefen Wijsard, Milo
- Varadisai, Adisai
- Vasquez, Liliana
- Vaughan, Leon O
- Veleva-Krasteva, Nevyana V
- Verma, Nishant
- Victor, Andi A
- Viksnins, Maris
- Villacís Chafla, Edwin G
- Vishnevskia-Dai, Vicktoria
- Vora, Tushar
- Wachtel, Antonio E
- Wackernagel, Werner
- Waddell, Keith
- Wade, Patricia D
- Wali, Amina H
- Wang, Yi-Zhuo
- Weiss, Avery
- Wilson, Matthew W
- Wime, Amelia D C
- Wiwatwongwana, Atchareeya
- Wiwatwongwana, Damrong
- Wolley Dod, Charlotte
- Wongwai, Phanthipha
- Xiang, Daoman
- Xiao, Yishuang
- Yam, Jason C
- Yang, Huasheng
- Yanga, Jenny M
- Yaqub, Muhammad A
- Yarovaya, Vera A
- Yarovoy, Andrey A
- Ye, Huijing
- Yousef, Yacoub A
- Yuliawati, Putu
- Zapata López, Arturo M
- Zein, Ekhtelbenina
- Zhang, Chengyue
- Zhang, Yi
- Zhao, Junyang
- Zheng, Xiaoyu
- Zhilyaeva, Katsiaryna
- Zia, Nida
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- Zondervan, Marcia
- Bowman, Richard
Producer: 20210104
In:
JAMA oncology vol. 6
Availability: No items available.
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