Batch bioethanol production via the biological and chemical saccharification of some Egyptian marine macroalgae von Soliman, R.M., Younis, S.A., El‐Gendy, N.Sh, Mostafa, S.S.M., El‐Temtamy, S.A., Hashim, A.I.

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Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect von Otaify, G. A., Abdel-Hamid, M. S., Mehrez, M. I., Aboul-Ezz, E., Zaki, M. S., Aglan, M. S., Temtamy, S. A.

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Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study von Otaify, G. A., Aglan, M. S., Ibrahim, M. M., Elnashar, M., El Banna, R. A. S., Temtamy, S. A.

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis von James, Jacqueline, Davies, Robin, Read, Andrew P, Roberts, Emma, Woods, C. Geoffrey, Wood, A. Joseph, McCormick, Derek, Hewitt, Chelsee, Ghaffar, Khaled Abdul, Thakker, Nalin S, Widmer, Richard, Wong, Melanie, Sloan, Philip, Lench, Nicholas, Hussein, Ibtessam Ramzy, Pemberton, Michael, Dixon, Michael J, Markham, Alexander, Temtamy, Samia A, Wu, Chu Lee, Toomes, Carmel, Moynihan, Leanne

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Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling von Hanson, D, Murray, P G, Coulson, T, Sud, A, Omokanye, A, Stratta, E, Sakhinia, F, Bonshek, C, Wilson, L C, Wakeling, E, Temtamy, S A, Aglan, M, Rosser, E M, Mansour, S, Carcavilla, A, Nampoothiri, S, Khan, W I, Banerjee, I, Chandler, K E, Black, G C M, Clayton, P E

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412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders von Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE

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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report von Hamamy, Hanan, Antonarakis, Stylianos E, Cavalli-Sforza, Luigi Luca, Temtamy, Samia, Romeo, Giovanni, Kate, Leo P Ten, Bennett, Robin L, Shaw, Alison, Megarbane, Andre, van Duijn, Cornelia, Bathija, Heli, Fokstuen, Siv, Engel, Eric, Zlotogora, Joel, Dermitzakis, Emmanouil, Bottani, Armand, Dahoun, Sophie, Morris, Michael A, Arsenault, Steve, Aglan, Mona S, Ajaz, Mubasshir, Alkalamchi, Ayad, Alnaqeb, Dhekra, Alwasiyah, Mohamed K, Anwer, Nawfal, Awwad, Rawan, Bonnefin, Melissa, Corry, Peter, Gwanmesia, Lorraine, Karbani, Gulshan A, Mostafavi, Maryam, Pippucci, Tommaso, Ranza-Boscardin, Emmanuelle, Reversade, Bruno, Sharif, Saghira M, Teeuw, Marieke E, Bittles, Alan H

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A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric ste... von Gad, YZ, Mazen, I, Lumbroso, S, Temtamy, SA, Sultan, C

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The most encountered groups of genetic disorders in Giza Governorate, Egypt von Afifi, H H, El-Ruby, M O, El-Bassyouni, H T, Ismail, S I, Aglan, M S, El-Harouni, A A, Mazen, I M, Zaki, M S, Bassiouni, R I, Hosny, L A, El-Kamah, G Y, El-Kotoury, A I, Ashour, A M, Abdel-Salam, G M, El-Gammal, M A, Hamed, K, Kamal, R M, El-Nekhely, I, Temtamy, S A

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NEW GENES AND DISEASES von Yoon, G., Estañ, M., Fernandez-Nuñez, E., Zak, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, J., Saade, D., Hu, Y., Bolduc, V., Chao, K., Otaify, G., Temtamy, S., Aglan, M., Issa, M., Bönnemann, C., Lapunzina, P., Ruiz-Perez, V.

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NEW GENES AND DISEASES: O.17Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy von Yoon, G., Estañ, M., Fernandez-Nuñez, E., Zak, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, J., Saade, D., Hu, Y., Bolduc, V., Chao, K., Otaify, G., Temtamy, S., Aglan, M., Issa, M., Bönnemann, C., Lapunzina, P., Ruiz-Perez, V.

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Haplotypes and mutations of the PAH locus in Egyptian families with PKU von Effat, L, Kuzmin, A, Kasem, N, Meguid, N Abdel, Kotb, S, Eisensmith, RC, Temtamy, SA, Rushdi, S, Woo, S, El-Awady, M

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A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies von Temtamy, S A, Meguid, N A, Ismail, S I, Ramzy, M I

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GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva von Meguid, Nagwa A., Afifi, Hanan H., Ramzy, Magda I., Hindawy, Amina, Temtamy, Samia A.

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Diagnosis and management of galactosemia: an Egyptian experience von Fateen, E, el-Shafei, S, el-Karaksy, H, Mahmoud, M, Roshdy, S, el-Temtamy, S, Shin, Y

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Desulfurization of Dibenzothiophene by a Novel Strain Brevibacillus Invocatus C19 Isolated from Egyptian Coke von Nassar, H.N., El-Gendy, N.Sh, Abo-State, M.A., Mostafa, Y.M., Mahdy, H.M., El-Temtamy, S. A.

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Haplotypes of the beta-globin gene as prognostic factors in sickle-cell disease von el-Hazmi, M A, Warsy, A S, Bashir, N, Beshlawi, A, Hussain, I R, Temtamy, S, Qubaili, F

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New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dys... von Temtamy, S A, Salam, M A, Aboul-Ezz, E H, Hussein, H A, Helmy, S A, Shalash, B A

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Molecular analysis of androgen resistance syndromes in Egyptian patients von ESSAWI, M, GAD, Y. Z, EL-ROUBY, O, TEMTAMY, S. A, SABOUR, Y. A, EL-AWADY, M. K

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Identification of Mediterranean β-Thalassemia Mutations by Reverse DOT-Blot in Italians and Egyptians von Rady, M. S., Baffico, M., Khalifa, A. S., Heshmat, N. M., El-Moselhy, S., Sciarratta, G. V., Hussein, I. R., Temtamy, S. A., Romeo, G.

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