Výsledky vyhledávání - Kini, Usha

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

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Cysts of the larynx : A clinicopathologic study of nine cases Autor 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? Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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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