The clinical presentation caused by truncating CHD8 variants
Douzgou, Sofia, Liang, Hui Wen, Metcalfe, Kay, Somarathi, Suresh, Tischkowitz, Marc, Mohamed, Wafik, Kini, Usha, McKee, Shane, Yates, Laura, Bertoli, Marta, Lynch, Sally Ann, Holder, Susan, Banka, Siddharth
Published in Clinical genetics (01.07.2019)
Published in Clinical genetics (01.07.2019)
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Transvenous Renal Biopsy of Critically Ill Patients: Safety and Diagnostic Yield
de Chambrun, Marc Pineton, Cluzel, Philippe, Brocheriou, Isabelle, Bréchot, Nicolas, Hékimian, Guillaume, Turki, Mohamed-Wafik, Franchineau, Guillaume, Rouvier, Philippe, Bourcier, Simon, Bureau, Côme, Nieszkowska, Ania, Le Guennec, Loïc, Mathian, Alexis, Amoura, Zahir, Schmidt, Matthieu, Combes, Alain, Luyt, Charles-Edouard
Published in Critical care medicine (01.03.2019)
Published in Critical care medicine (01.03.2019)
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The Application of Dwyer and Kim Integrated Model of Competitiveness in Egypt Geotourism Sites: A Case Study of Jebel Qatrani
Maha Yehia Kamel Abdou, Ghada Mohamed Wafik, Suzan Bakri Hassan
Published in International journal of hospitality & tourism systems (01.12.2022)
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Published in International journal of hospitality & tourism systems (01.12.2022)
Journal Article
Prenatal and pre-implantation genetic testing for monogenic disorders for germline cancer susceptibility gene variants: summary of the UK British Society for Genetic Medicine joint consensus guidance
Wafik, Mohamed, Kulkarni, Anjana
Published in Obstetrics, gynaecology and reproductive medicine (01.07.2024)
Published in Obstetrics, gynaecology and reproductive medicine (01.07.2024)
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Prenatal and pre-implantation genetic testing for monogenic disorders for germline cancer susceptibility gene variants: UK joint consensus guidance
Wafik, Mohanedo, Kilby, Mark David, Kulkarni, Anjana
Published in BJOG : an international journal of obstetrics and gynaecology (01.12.2023)
Published in BJOG : an international journal of obstetrics and gynaecology (01.12.2023)
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Impedance Spectroscopy and Neurocomputing Approaches to Investigate the Enhanced Electrical Blocking Properties of CH3(CH2)n−1SH Thin Monolayers Electrodeposited on a Gold Electrode
Hadjimi, Safia, Belayadi, Adel, Zabat, Mokhtar, Mougari, Ahmed, Khemici, Mohamed Wafik
Published in Journal of electronic materials (15.06.2019)
Published in Journal of electronic materials (15.06.2019)
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Journal Article
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype
Wafik, Mohamed, Kuoppamaa, Heidi, Hirani, Priyal, Hignett, John, Lillis, Suzanne, Lascelles, Karine, Sardesai, Shweta, Gomez, Kumudini, Holder-Espinasse, Muriel
Published in Clinical dysmorphology (01.07.2023)
Published in Clinical dysmorphology (01.07.2023)
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Journal Article
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A L, Nibbeling, Esther, Dingemans, Alexander J M, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Journal Article
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
Pagnamenta, Alistair T, Yu, Jing, Evans, Julie, Twiss, Philip, Offiah, Amaka C, Wafik, Mohamed, Mehta, Sarju G, Javaid, Mohammed K, Smithson, Sarah F, Taylor, Jenny C, Ambrose, J C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, T J P, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, S E A, Leong, I U S, Lopez, J F, Maleady-Crowe, F, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, O’Donovan, P, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smith, S C, Sosinsky, A, Stuckey, Alexander, Tanguy, M, Taylor-Tavares, A L, Thomas, E R A, Thompson, S R, Tucci, A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Balasubramanian, M, Bubbear, J, Burren, C, Calder, A, Fairhurst, J, Gevers, E, Hunt, D, Irving, M, Javaid, MK, Mohsin, Z, Offiah, A C, Pagnamenta, AT, Sabir, A, Shears, D, Smithson, S F, Suri, M, Taylor, JC, Wilkie, A, Wilson, L
Published in Journal of medical genetics (01.05.2023)
Published in Journal of medical genetics (01.05.2023)
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Journal Article
The Effects of E-Service Quality Dimensions on Tourists e-Satisfaction
Mohammed Ezzat Mohammed, Ghada Mohamed Wafik
Published in International journal of hospitality & tourism systems (01.01.2016)
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Published in International journal of hospitality & tourism systems (01.01.2016)
Journal Article
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A L, Nibbeling, Esther, Dingemans, Alexander J M, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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