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Search Results - Atik, Mehmed M.
Search Results - Atik, Mehmed M.
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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
by
Bayram, Yavuz
,
Karaca, Ender
,
Coban Akdemir, Zeynep
,
Yilmaz, Elif Ozdamar
,
Tayfun, Gulsen Akay
,
Aydin, Hatip
,
Torun, Deniz
,
Bozdogan, Sevcan Tug
,
Gezdirici, Alper
,
Isikay, Sedat
,
Atik, Mehmed M
,
Gambin, Tomasz
,
Harel, Tamar
,
El-Hattab, Ayman W
,
Charng, Wu-Lin
,
Pehlivan, Davut
,
Jhangiani, Shalini N
,
Muzny, Donna M
,
Karaman, Ali
,
Celik, Tamer
,
Yuregir, Ozge Ozalp
,
Yildirim, Timur
,
Bayhan, Ilhan A
,
Boerwinkle, Eric
,
Gibbs, Richard A
,
Elcioglu, Nursel
,
Tuysuz, Beyhan
,
Lupski, James R
Published in
The Journal of clinical investigation
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
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
Published in
The Journal of clinical investigation
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Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome
by
Karaca, Ender
,
Buyukkaya, Ramazan
,
Pehlivan, Davut
,
Charng, Wu-Lin
,
Yaykasli, Kursat O
,
Bayram, Yavuz
,
Gambin, Tomasz
,
Withers, Marjorie
,
Atik, Mehmed M
,
Arslanoglu, Ilknur
,
Bolu, Semih
,
Erdin, Serkan
,
Buyukkaya, Ayla
,
Yaykasli, Emine
,
Jhangiani, Shalini N
,
Muzny, Donna M
,
Gibbs, Richard A
,
Lupski, James R
Published in
The journal of clinical endocrinology and metabolism
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
by
Charng, Wu-Lin
,
Karaca, Ender
,
Coban Akdemir, Zeynep
,
Gambin, Tomasz
,
Atik, Mehmed M
,
Gu, Shen
,
Posey, Jennifer E
,
Jhangiani, Shalini N
,
Muzny, Donna M
,
Doddapaneni, Harsha
,
Hu, Jianhong
,
Boerwinkle, Eric
,
Gibbs, Richard A
,
Rosenfeld, Jill A
,
Cui, Hong
,
Xia, Fan
,
Manickam, Kandamurugu
,
Yang, Yaping
,
Faqeih, Eissa A
,
Al Asmari, Ali
,
Saleh, Mohammed A M
,
El-Hattab, Ayman W
,
Lupski, James R
Published in
BMC medical genomics
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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome
by
Karaca, Ender
,
Yuregir, Ozge O.
,
Bozdogan, Sevcan T.
,
Aslan, Huseyin
,
Pehlivan, Davut
,
Jhangiani, Shalini N.
,
Akdemir, Zeynep C.
,
Gambin, Tomasz
,
Bayram, Yavuz
,
Atik, Mehmed M.
,
Erdin, Serkan
,
Muzny, Donna
,
Gibbs, Richard A.
,
Lupski, James R.
Published in
American journal of medical genetics. Part A
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Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism
by
Bayram, Yavuz
,
Gulsuner, Suleyman
,
Guran, Tulay
,
Abaci, Ayhan
,
Yesil, Gozde
,
Gulsuner, Hilal Unal
,
Atay, Zeynep
,
Pierce, Sarah B
,
Gambin, Tomasz
,
Lee, Ming
,
Turan, Serap
,
Bober, Ece
,
Atik, Mehmed M
,
Walsh, Tom
,
Karaca, Ender
,
Pehlivan, Davut
,
Jhangiani, Shalini N
,
Muzny, Donna
,
Bereket, Abdullah
,
Buyukgebiz, Atilla
,
Boerwinkle, Eric
,
Gibbs, Richard A
,
King, Mary-Claire
,
Lupski, James R
Published in
The journal of clinical endocrinology and metabolism
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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
by
Okamoto, Yuji
,
Goksungur, Meryem Tuba
,
Pehlivan, Davut
,
Beck, Christine R
,
Gonzaga-Jauregui, Claudia
,
Muzny, Donna M
,
Atik, Mehmed M
,
Carvalho, Claudia M B
,
Matur, Zeliha
,
Bayraktar, Serife
,
Boone, Philip M
,
Akyuz, Kaya
,
Gibbs, Richard A
,
Battaloglu, Esra
,
Parman, Yesim
,
Lupski, James R
Published in
Genetics in medicine
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Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI
by
Bayram, Yavuz
,
Aydin, Hatip
,
Gambin, Tomasz
,
Akdemir, Zeynep Coban
,
Atik, Mehmed M.
,
Karaca, Ender
,
Karaman, Ali
,
Pehlivan, Davut
,
Jhangiani, Shalini N.
,
Gibbs, Richard A.
,
Lupski, James R.
Published in
American journal of medical genetics. Part A
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
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.
Published in
Neuron (Cambridge, Mass.)
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