Bilaketaren emaitzak - Kini, Usha

Authors muscle in on history: The History of a Genetic Disease Duchenne Muscular Dystrophy or Meryon's disease nork Kini, Usha, Cilliers, Deirdre

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Cysts of the larynx : A clinicopathologic study of nine cases nork Kaur, Amandeep, Kini, Usha, Alva, Sunith Kumar

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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? nork Alkindy, Adila, Chuzhanova, Nadia, Kini, Usha, Cooper, David N, Upadhyaya, Meena

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Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities nork Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha

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A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly nork Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.

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NOTCH, a new signaling pathway implicated in holoprosencephaly nork Dupé, Valérie, Rochard, Lucie, Mercier, Sandra, Le Pétillon, Yann, Gicquel, Isabelle, Bendavid, Claude, Bourrouillou, Georges, Kini, Usha, Thauvin-Robinet, Christel, Bohan, Timothy P., Odent, Sylvie, Dubourg, Christèle, David, Véronique

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Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis nork Pagnamenta, Alistair T., Howard, Malcolm F., Wisniewski, Eva, Popitsch, Niko, Knight, Samantha J.L., Keays, David A., Quaghebeur, Gerardine, Cox, Helen, Cox, Phillip, Balla, Tamas, Taylor, Jenny C., Kini, Usha

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Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene nork Suter, Aude‐Annick, Itin, Peter, Heinimann, Karl, Ahmed, Munaza, Ashraf, Tazeen, Fryssira, Helen, Kini, Usha, Lapunzina, Pablo, Miny, Peter, Sommerlund, Mette, Suri, Mohnish, Vaeth, Signe, Vasudevan, Pradeep, Gallati, Sabina

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A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss nork Pagnamenta, Alistair T, Murray, Jennie E, Yoon, Grace, Akha, Elham Sadighi, Harrison, Victoria, Bicknell, Louise S, Ajilogba, Kaseem, Stewart, Helen, Kini, Usha, Taylor, Jenny C, Keays, David A, Jackson, Andrew P, Knight, Samantha JL

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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals nork Kharbanda, Mira, Pilz, Daniela T, Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick, David R, Kinning, Esther

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Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature nork Au, P. Y. Billie, Goedhart, Caitlin, Ferguson, Marcia, Breckpot, Jeroen, Devriendt, Koenraad, Wierenga, Klaas, Fanning, Elizabeth, Grange, Dorothy K., Graham, Gail E., Galarreta, Carolina, Jones, Marilyn C., Kini, Usha, Stewart, Helen, Parboosingh, Jillian S., Kline, Antonie D., Innes, A. Micheil

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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders nork Pagnamenta, Alistair T, Murakami, Yoshiko, Taylor, John M, Anzilotti, Consuelo, Howard, Malcolm F, Miller, Venessa, Johnson, Diana S, Tadros, Shereen, Mansour, Sahar, Temple, I Karen, Firth, Rachel, Rosser, Elisabeth, Harrison, Rachel E, Kerr, Bronwen, Popitsch, Niko, Kinoshita, Taroh, Taylor, Jenny C, Kini, Usha

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Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome nork Powell, Laura, Olinger, Eric, Wedderburn, Sarah, Ramakumaran, Vijayalakshmi Salem, Kini, Usha, Clayton-Smith, Jill, Ramsden, Simon C, Rice, Sarah J, Barroso-Gil, Miguel, Wilson, Ian, Cowley, Lorraine, Johnson, Sally, Harris, Elizabeth, Montgomery, Tara, Bertoli, Marta, Boltshauser, Eugen, Sayer, John A

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations nork Conti, Valerio, Carabalona, Aurelie, Pallesi-Pocachard, Emilie, Leventer, Richard J., Schaller, Fabienne, Parrini, Elena, Deparis, Agathe A., Watrin, Françoise, Buhler, Emmanuelle, Novara, Francesca, Lise, Stefano, Pagnamenta, Alistair T., Kini, Usha, Taylor, Jenny C., Zuffardi, Orsetta, Represa, Alfonso, Keays, David Antony, Guerrini, Renzo, Falace, Antonio, Cardoso, Carlos

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Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community nork RAJASIMHA, HARSHA KARUR, SHIROL, PRASANNAKUMAR BASAYYA, RAMAMOORTHY, PREVEEN, HEGDE, MADHURI, BARDE, SANGEETA, CHANDRU, VIJAY, RAVINANDAN, M. E., RAMCHANDRAN, RAMANI, HALDAR, KASTURI, LIN, JIMMY C., BABAR, IMRAN A., GIRISHA, KATTA M., SRINIVASAN, SUDHA, NAVANEETHAM, DURAISWAMY, BATTU, RAJANI, DEVARAKONDA, RAJASHREE, KINI, USHA, VIJAYACHANDRA, KINNIMULKI, VERMA, ISHWAR C.

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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome nork Hempel, Annmarie, Pagnamenta, Alistair T, Blyth, Moira, Mansour, Sahar, McConnell, Vivienne, Kou, Ikuyo, Ikegawa, Shiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Lo-Castro, Adriana, Plessis, Ghislaine, Albrecht, Beate, Battaglia, Agatino, Taylor, Jenny C, Howard, Malcolm F, Keays, David, Sohal, Aman Singh, Kühl, Susanne J, Kini, Usha, McNeill, Alisdair

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De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation nork Haas, Matilda A., Ngo, Linh, Li, Shan Shan, Schleich, Sibylle, Qu, Zhengdong, Vanyai, Hannah K., Cullen, Hayley D., Cardona-Alberich, Aida, Gladwyn-Ng, Ivan E., Pagnamenta, Alistair T., Taylor, Jenny C., Stewart, Helen, Kini, Usha, Duncan, Kent E., Teleman, Aurelio A., Keays, David A., Heng, Julian I.-T.

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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data nork Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H., Scott, Richard H., Wright, Caroline F., Marsh, Joseph A., Hurles, Matthew E., FitzPatrick, David R.

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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes nork Yap, Zheng Yie, Park, Yo Han, Wortmann, Saskia B., Gunning, Adam C., Ezer, Shlomit, Lee, Sukyeong, Duraine, Lita, Wilichowski, Ekkehard, Wilson, Kate, Mayr, Johannes A., Wagner, Matias, Li, Hong, Kini, Usha, Black, Emily Davis, Monaghan, Kristin G., Lupski, James R., Ellard, Sian, Westphal, Dominik S., Harel, Tamar, Yoon, Wan Hee

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Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation nork Howard, Malcolm F., Murakami, Yoshiko, Pagnamenta, Alistair T., Daumer-Haas, Cornelia, Fischer, Björn, Hecht, Jochen, Keays, David A., Knight, Samantha J.L., Kölsch, Uwe, Krüger, Ulrike, Leiz, Steffen, Maeda, Yusuke, Mitchell, Daphne, Mundlos, Stefan, Phillips, John A., Robinson, Peter N., Kini, Usha, Taylor, Jenny C., Horn, Denise, Kinoshita, Taroh, Krawitz, Peter M.

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