Results
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1.
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A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. [electronic resource] by
- Seven, Mehmet
- Koparir, Erkan
- Gezdirici, Alper
- Aydin, Hatip
- Skladny, Heyko
- Fenercioğlu, Elif
- Güven, Gülgün
- Karataş, Ömer Faruk
- Koparir, Asuman
- Özen, Mustafa
- Ulucan, Hakan
Producer: 20140721
In:
Clinical dysmorphology vol. 23
Availability: No items available.
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2.
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. [electronic resource] by
- Yuan, Bo
- Pehlivan, Davut
- Karaca, Ender
- Patel, Nisha
- Charng, Wu-Lin
- Gambin, Tomasz
- Gonzaga-Jauregui, Claudia
- Sutton, V Reid
- Yesil, Gozde
- Bozdogan, Sevcan Tug
- Tos, Tulay
- Koparir, Asuman
- Koparir, Erkan
- Beck, Christine R
- Gu, Shen
- Aslan, Huseyin
- Yuregir, Ozge Ozalp
- Al Rubeaan, Khalid
- Alnaqeb, Dhekra
- Alshammari, Muneera J
- Bayram, Yavuz
- Atik, Mehmed M
- Aydin, Hatip
- Geckinli, B Bilge
- Seven, Mehmet
- Ulucan, Hakan
- Fenercioglu, Elif
- Ozen, Mustafa
- Jhangiani, Shalini
- Muzny, Donna M
- Boerwinkle, Eric
- Tuysuz, Beyhan
- Alkuraya, Fowzan S
- Gibbs, Richard A
- Lupski, James R
Producer: 20150410
In:
The Journal of clinical investigation vol. 125
Availability: No items available.
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3.
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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. [electronic resource] by
- Schaffer, Ashleigh E
- Breuss, Martin W
- Caglayan, Ahmet Okay
- Al-Sanaa, Nouriya
- Al-Abdulwahed, Hind Y
- Kaymakçalan, Hande
- Yılmaz, Cahide
- Zaki, Maha S
- Rosti, Rasim O
- Copeland, Brett
- Baek, Seung Tae
- Musaev, Damir
- Scott, Eric C
- Ben-Omran, Tawfeg
- Kariminejad, Ariana
- Kayserili, Hulya
- Mojahedi, Faezeh
- Kara, Majdi
- Cai, Na
- Silhavy, Jennifer L
- Elsharif, Seham
- Fenercioglu, Elif
- Barshop, Bruce A
- Kara, Bulent
- Wang, Rengang
- Stanley, Valentina
- James, Kiely N
- Nachnani, Rahul
- Kalur, Aneesha
- Megahed, Hisham
- Incecik, Faruk
- Danda, Sumita
- Alanay, Yasemin
- Faqeih, Eissa
- Melikishvili, Gia
- Mansour, Lobna
- Miller, Ian
- Sukhudyan, Biayna
- Chelly, Jamel
- Dobyns, William B
- Bilguvar, Kaya
- Jamra, Rami Abou
- Gunel, Murat
- Gleeson, Joseph G
Producer: 20190424
In:
Nature genetics vol. 50
Availability: No items available.
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4.
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. [electronic resource] by
- Karaca, Ender
- Harel, Tamar
- Pehlivan, Davut
- Jhangiani, Shalini N
- Gambin, Tomasz
- Coban Akdemir, Zeynep
- Gonzaga-Jauregui, Claudia
- Erdin, Serkan
- Bayram, Yavuz
- Campbell, Ian M
- Hunter, Jill V
- Atik, Mehmed M
- Van Esch, Hilde
- Yuan, Bo
- Wiszniewski, Wojciech
- Isikay, Sedat
- Yesil, Gozde
- Yuregir, Ozge O
- Tug Bozdogan, Sevcan
- Aslan, Huseyin
- Aydin, Hatip
- Tos, Tulay
- Aksoy, Ayse
- De Vivo, Darryl C
- Jain, Preti
- Geckinli, B Bilge
- Sezer, Ozlem
- Gul, Davut
- Durmaz, Burak
- Cogulu, Ozgur
- Ozkinay, Ferda
- Topcu, Vehap
- Candan, Sukru
- Cebi, Alper Han
- Ikbal, Mevlit
- Yilmaz Gulec, Elif
- Gezdirici, Alper
- Koparir, Erkan
- Ekici, Fatma
- Coskun, Salih
- Cicek, Salih
- Karaer, Kadri
- Koparir, Asuman
- Duz, Mehmet Bugrahan
- Kirat, Emre
- Fenercioglu, Elif
- Ulucan, Hakan
- Seven, Mehmet
- Guran, Tulay
- Elcioglu, Nursel
- Yildirim, Mahmut Selman
- Aktas, Dilek
- Alikaşifoğlu, Mehmet
- Ture, Mehmet
- Yakut, Tahsin
- Overton, John D
- Yuksel, Adnan
- Ozen, Mustafa
- Muzny, Donna M
- Adams, David R
- Boerwinkle, Eric
- Chung, Wendy K
- Gibbs, Richard A
- Lupski, James R
Producer: 20160217
In:
Neuron vol. 88
Availability: No items available.
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