Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide von Moorthie, Sowmiya, Blencowe, Hannah, Darlison, Matthew W., Lawn, Joy, Morris, Joan K., Modell, Bernadette, Bittles, A. H., Blencowe, H., Christianson, A., Cousens, S., Darlison, M. W., Gibbons, S., Hamamy, H., Khoshnood, B., Howson, C. P., Lawn, J., Mastroiacovo, P., Modell, B., Moorthie, S., Morris, J. K., Mossey, P. A., Neville, A. J., Petrou, M., Povey, S., Rankin, J., Schuler-Faccini, L., Wren, C., Yunnis, K. A.

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Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide von Moorthie, Sowmiya, Blencowe, Hannah, Darlison, Matthew W., Gibbons, Stephen, Lawn, Joy E., Mastroiacovo, Pierpaolo, Morris, Joan K., Modell, Bernadette

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Consanguineous marriages in Jordan: why is the rate changing with time? von Hamamy, H, Jamhawi, L, Al-Darawsheh, J, Ajlouni, K

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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders von Fokstuen, S, Makrythanasis, P, Hammar, E, Guipponi, M, Ranza, E, Varvagiannis, K, Santoni, F A, Albarca-Aguilera, M, Poleggi, M E, Couchepin, F, Brockmann, C, Mauron, A, Hurst, S A, Moret, C, Gehrig, C, Vannier, A, Bevillard, J, Araud, T, Gimelli, S, Stathaki, E, Paoloni-Giacobino, A, Bottani, A, Sloan-Béna, F, Sizonenko, L D'Amato, Mostafavi, M, Hamamy, H, Nouspikel, T, Blouin, J L, Antonarakis, S E

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Genetic Clinics in Arab Communities: Meeting Individual, Family and Community Needs von Hamamy, H., Bittles, A.H.

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An overview of concepts and approaches used in estimating the burden of congenital disorders globally von Moorthie, Sowmiya, Blencowe, Hannah, W. Darlison, Matthew, Lawn, Joy E., Mastroiacovo, Pierpaolo, Morris, Joan K., Modell, Bernadette

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Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders von Blencowe, Hannah, Moorthie, Sowmiya, Darlison, Matthew W., Gibbons, Stephen, Modell, Bernadette

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PREVALENCE OF CONSANGUINEOUS MARRIAGES IN SOUTH SINAI, EGYPT von YAMAMAH, G., ABDEL-RAOUF, E., TALAAT, A., SAAD-HUSSEIN, A., HAMAMY, H., MEGUID, N. A.

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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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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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Sanjad Sakati syndrome: a case series from Jordan von Albaramki, J, Akl, K, Al-Muhtaseb, A, Al-Shboul, M, Mahmoud, T, El-Khateeb, M, Hamamy, H

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Brachydactyly type B1: report of a family with de novo ROR2 mutation von Hamamy, H, Saleh, N, Oldridge, M, Al-Hadidy, A, Ajlouni, K

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Rare single gene disorders: estimating baseline prevalence and outcomes worldwide von Blencowe, Hannah, Moorthie, Sowmiya, Petrou, Mary, Hamamy, Hanan, Povey, Sue, Bittles, Alan, Gibbons, Stephen, Darlison, Matthew, Modell, Bernadette

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Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance von Reversade, B, Escande-Beillard, N, Dimopoulou, A, Fischer, B, Li, Y, Kayserili, H, Al-Gazali, L, Brancati, F, Lee, H, O'Connor, B, Kornak, U, Schmidt-von Kegler, M, Merriman, B, Nelson, S.F, Masri, A, Guerra, D, nanda, A, Rajab, A, Grix, A, Sommer, A, Janecke, A.R, Steichen, E, Nürnberg, P, Seemann, P, Zambruno, G, Dallapiccola, B, Schuelke, M, Robertson, S, Hamamy, H, Wollnik, B, Van Maldergem, L, Mundlos, S

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Precocious puberty at an endocrine centre in Jordan von Taher, B. M., Ajlouni, H. K., Hamamy, H. A., Shegem, N. S., Madanat, A. Y., Ajlouni, K. M.

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Wrinkly skin syndrome von Hamamy, H., Masri, A., Ajlouni, K.

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Congenital pseudoarthrosis associated with venous malformation von AL-HADIDY, A, HAROUN, A, AL-RYALAT, N, HAMAMY, H, AL-HADIDI, S

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Hereditary disorders in the Eastern Mediterranean Region von HAMAMY, H, ALWAN, A

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Jordan: Communities and Community Genetics von Hamamy, Hanan, Al-Hait, Sana, Alwan, Aladin, Ajlouni, Kamel

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Parental decisions following the prenatal diagnosis of sex chromosome abnormalities von Hamamy, Hanan A, Dahoun, Sophie

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