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5 results for Alkindy,+Adila

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ArticlesPeer ReviewedFull Text
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Author / Creator:Valente, Enza Maria ; Logan, Clare V ; Mougou-Zerelli, Soumaya ; Lee, Jeong Ho ; Silhavy, Jennifer L ; Brancati, Francesco ; Iannicelli, Miriam ; Travaglini, Lorena ; Romani, Sveva ; Illi, Barbara ; Adams, Matthew ; Szymanska, Katarzyna ; Mazzotta, Annalisa ; Lee, Ji Eun ; Tolentino, Jerlyn C ; Swistun, Dominika ; Salpietro, Carmelo D ; Fede, Carmelo ; Gabriel, Stacey ; Russ, Carsten ; Cibulskis, Kristian ; Sougnez, Carrie ; Hildebrandt, Friedhelm ; Otto, Edgar A ; Held, Susanne ; Diplas, Bill H ; Davis, Erica E ; Mikula, Mario ; Strom, Charles M ; Ben-Zeev, Bruria ; Lev, Dorit ; Sagie, Tally Lerman ; Michelson, Marina ; Yaron, Yuval ; Krause, Amanda ; Boltshauser, Eugen ; Elkhartoufi, Nadia ; Roume, Joelle ; Shalev, Stavit ; Munnich, Arnold ; Saunier, Sophie ; Inglehearn, Chris ; Saad, Ali ; Alkindy, Adila ; Thomas, Sophie ; Vekemans, Michel ; Dallapiccola, Bruno ; Katsanis, Nicholas ; Johnson, Colin A ; Attié-Bitach, Tania ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2010-07, Vol.42 (7), p.619-625
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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Author / Creator:Alkindy, Adila ; Chuzhanova, Nadia ; Kini, Usha ; Cooper, David N ; Upadhyaya, Meena
Publisher:England: BioMed Central Ltd
Journal title:Human genomics, 2012-08, Vol.6 (1), p.12-12
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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome
Author / Creator:Gordon, Christopher T ; Vuillot, Alice ; Marlin, Sandrine ; Gerkes, Erica ; Henderson, Alex ; AlKindy, Adila ; Holder-Espinasse, Muriel ; Park, Sarah S ; Omarjee, Asma ; Sanchis-Borja, Mateo ; Bdira, Eya Ben ; Oufadem, Myriam ; Sikkema-Raddatz, Birgit ; Stewart, Alison ; Palmer, Rodger ; McGowan, Ruth ; Petit, Florence ; Delobel, Bruno ; Speicher, Michael R ; Aurora, Paul ; Kilner, David ; Pellerin, Philippe ; Simon, Marie ; Bonnefont, Jean-Paul ; Tobias, Edward S ; García-Miñaúr, Sixto ; Bitner-Glindzicz, Maria ; Lindholm, Pernille ; Meijer, Brigitte A ; Abadie, Véronique ; Denoyelle, Françoise ; Vazquez, Marie-Paule ; Rotky-Fast, Christa ; Couloigner, Vincent ; Pierrot, Sébastien ; Manach, Yves ; Breton, Sylvain ; Hendriks, Yvonne M C ; Munnich, Arnold ; Jakobsen, Linda ; Kroisel, Peter ; Lin, Angela ; Kaban, Leonard B ; Basel-Vanagaite, Lina ; Wilson, Louise ; Cunningham, Michael L ; Lyonnet, Stanislas ; Amiel, Jeanne
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-03, Vol.50 (3), p.174-186
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Correction: The ARID1B spectrum in 143 patients: fromnonsyndromic intellectual disability to Coffin–Siris syndrome
Author / Creator:Jansen, Sandra ; Vergano Samantha A ; Adachi-Fukuda Miho ; Alanay Yasemin ; AlKindy Adila ; Baban Anwar ; Bayat, Allan ; Beck-Wödl Stefanie ; Berry, Katherine ; Bijlsma, Emilia K ; Bok, Levinus A ; Brouwer Alwin F J ; van der Burgt Ineke ; Campeau, Philippe M ; Canham, Natalie ; Chrzanowska Krystyna ; Chu Yoyo W Y ; Chung Brain H Y ; Dahan, Karin ; De, Rademaeker Marjan ; Destree Anne ; Dudding-Byth Tracy ; Earl, Rachel ; Elcioglu Nursel ; Elias, Ellen R ; Gardham Alice ; Gener Blanca ; Gerkes, Erica H ; Grasshoff Ute ; van Haeringen Arie ; Heitink, Karin R ; Herkert, Johanna C ; den Hollander Nicolette S ; Horn, Denise ; Hunt, David ; Kato Mitsuhiro ; Kayserili Hülya ; Kersseboom Rogier ; Kilic Esra ; Krajewska-Walasek Malgorzata ; Lammers Kylin ; Laulund, Lone W ; Lederer, Damien ; Lees, Melissa ; López-González Vanesa ; Maas Saskia ; Mancini, Grazia M ; Marcelis, Carlo ; Martinez, Francisco ; Maystadt Isabelle ; McGuire, Marianne ; McKee, Shane ; Mehta Sarju ; Metcalfe, Kay ; Milunsky, Jeff ; Mizuno Seiji ; Moeschler, John B ; Netzer, Christian ; Ockeloen, Charlotte W ; Oehl-Jaschkowitz Barbara ; Okamoto Nobuhiko ; Olminkhof Sharon N M ; Pasquier, Laurent ; Pottinger, Caroline ; Riehmer Vera ; Robertson, Stephen P ; Roifman Maian ; Rooryck Caroline ; Ropers, Fabienne G ; Rosello, Monica ; Ruivenkamp Claudia A L ; Sagiroglu, Mahmut S ; Sallevelt Suzanne C E H ; Calvo, Amparo Sanchis ; Simsek-Kiper, Pelin O ; Soares, Gabriela ; Solaeche Lucia ; Sonmez Fatma Mujgan ; Splitt Miranda ; Steenbeek Duco ; Stegmann Alexander P A ; Stumpel Constance T R M ; Tanabe Saori ; Eyyup, Uctepe ; Eda, Utine G ; Veenstra-Knol, Hermine E ; Venkateswaran Sunita ; Vilain Catheline ; Vincent-Delorme, Catherine ; Wheeler, Patricia ; Wilson, Golder N ; Wilson, Louise C ; Wollnik Bernd ; Kosho Tomoki ; Wieczorek Dagmar ; Eichler, Evan ; Rolph, Pfundt ; de Vries Bert B A ; Clayton-Smith, Jill ; Santen Gijs W E
Publisher:Bethesda: Elsevier Limited
Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.2160-2161
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ArticlesPeer ReviewedFull Text
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?
Author / Creator:Alkindy, Adila ; Chuzhanova, Nadia ; Kini, Usha ; Cooper, David N ; Upadhyaya, Meena
Publisher:London: BioMed Central
Journal title:Human genomics, 2012-08, Vol.6 (1), Article 12
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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

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Correction: The ARID1B spectrum in 143 patients: fromnonsyndromic intellectual disability to Coffin–Siris syndrome

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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

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