Canlyniadau Chwilio - Mohammed Shehla

Mireinio'r Canlyniadau
  1. 1
    Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder

    Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder gan Devito, Liani G., Healy, Lyn, Mohammed, Shehla, Guillemot, Francois, Dias, Cristina

    Cyhoeddwyd 2021
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  2. 2
    Clinical utility gene card for: Vici Syndrome

    Clinical utility gene card for: Vici Syndrome gan Cullup, Thomas, Dionisi-Vici, Carlo, Kho, Ay L, Yau, Shu, Mohammed, Shehla, Gautel, Mathias, Jungbluth, Heinz

    Cyhoeddwyd 2014
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  3. 3
    Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

    Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance gan Ahn, Joo Wook, Mann, Kathy, Walsh, Sally, Shehab, Marwa, Hoang, Sarah, Docherty, Zoe, Mohammed, Shehla, Mackie Ogilvie, Caroline

    Cyhoeddwyd 2010
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  4. 4
    Segmental Paternal Uniparental Disomy (patUPD) of 14q32 With Abnormal Methylation Elicits the Characteristic Features of Complete patUPD14

    Segmental Paternal Uniparental Disomy (patUPD) of 14q32 With Abnormal Methylation Elicits the Characteristic Features of Complete patUPD14 gan Irving, Melita D., Buiting, Karin, Kanber, Deniz, Donaghue, Celia, Schulz, Reiner, Offiah, Amaka, Mohammed, Shehla N., Oakey, Rebecca J.

    Cyhoeddwyd 2010
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  5. 5
    A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

    A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings gan Ahn, Joo Wook, Bint, Susan, Irving, Melita D., Kyle, Phillipa M., Akolekar, Ranjit, Mohammed, Shehla N., Mackie Ogilvie, Caroline

    Cyhoeddwyd 2014
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  6. 6
    An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

    An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene gan Millar, David S, Tysoe, Carolyn, Lazarou, Lazarus P, Pilz, Daniela T, Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David N, Butler, Rachel

    Cyhoeddwyd 2010
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  7. 7
    Detection of structural mosaicism from targeted and whole-genome sequencing data

    Detection of structural mosaicism from targeted and whole-genome sequencing data gan Daniel A. King, Alejandro Sifrim, Tomas Fitzgerald, Raheleh Rahbari, Emma Hobson, Tessa Homfray, Sahar Mansour, Sarju Mehta, Mohammed Shehla, Susan Tomkins, Pradeep Vasudevan, Matthew E. Hurles

    Cyhoeddwyd 2017
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  8. 8
    Mapping of partially overlapping de novo deletions across an autism susceptibility region [AUTS5] in two unrelated individuals affected by developmental delays with communication impairment

    Mapping of partially overlapping de novo deletions across an autism susceptibility region [AUTS5] in two unrelated individuals affected by developmental delays with communication i... gan Newbury, Dianne F, Warburton, Pamela C, Wilson, Natalie, Bacchelli, Elena, Carone, Simona, Lamb, Janine A, Maestrini, Elena, Volpi, Emanuela V, Mohammed, Shehla, Baird, Gillian, Monaco, Anthony P

    Cyhoeddwyd 2009
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  9. 9
    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

    Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita gan Tummala, Hemanth, Walne, Amanda, Collopy, Laura, Cardoso, Shirleny, de la Fuente, Josu, Lawson, Sarah, Powell, James, Cooper, Nicola, Foster, Alison, Mohammed, Shehla, Plagnol, Vincent, Vulliamy, Thomas, Dokal, Inderjeet

    Cyhoeddwyd 2015
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  10. 10
    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome gan Forsythe, Elizabeth, Sparks, Kathryn, Best, Sunayna, Borrows, Sarah, Hoskins, Bethan, Sabir, Ataf, Barrett, Timothy, Williams, Denise, Mohammed, Shehla, Goldsmith, David, Milford, David V., Bockenhauer, Detlef, Foggensteiner, Lukas, Beales, Philip L.

    Cyhoeddwyd 2017
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  11. 11
    Clinical expression of Menkes disease in females with normal karyotype

    Clinical expression of Menkes disease in females with normal karyotype gan Møller, Lisbeth Birk, Lenartowicz, Malgorzata, Zabot, Marie-Therese, Josiane, Arnaud, Burglen, Lydie, Bennett, Chris, Riconda, Daniel, Fisher, Richard, Janssens, Sandra, Mohammed, Shehla, Ausems, Margreet, Tümer, Zeynep, Horn, Nina, Jensen, Thomas G

    Cyhoeddwyd 2012
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  12. 12
    17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

    17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations gan Vergult, Sarah, Dauber, Andrew, Chiaie, Barbara Delle, Van Oudenhove, Elke, Simon, Marleen, Rihani, Ali, Loeys, Bart, Hirschhorn, Joel, Pfotenhauer, Jean, Phillips, John A, Mohammed, Shehla, Ogilvie, Caroline, Crolla, John, Mortier, Geert, Menten, Björn

    Cyhoeddwyd 2012
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  13. 13
    Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

    Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype gan Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie Dahl, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma L, McInerney-Leo, Aideen M, Wheeler, Patricia G, Roschger, Paul, Klaushofer, Klaus, Rai, Jyoti, Weis, MaryAnn, Eyre, David, Schwarze, Ulrike, Byers, Peter H

    Cyhoeddwyd 2018
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  14. 14
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome gan Clayton-Smith, Jill, O'Sullivan, James, Daly, Sarah, Bhaskar, Sanjeev, Day, Ruth, Anderson, Beverley, Voss, Anne K., Thomas, Tim, Biesecker, Leslie G., Smith, Philip, Fryer, Alan, Chandler, Kate E., Kerr, Bronwyn, Tassabehji, May, Lynch, Sally-Ann, Krajewska-Walasek, Malgorzata, McKee, Shane, Smith, Janine, Sweeney, Elizabeth, Mansour, Sahar, Mohammed, Shehla, Donnai, Dian, Black, Graeme

    Cyhoeddwyd 2011
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  15. 15
    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes gan Reijnders, Margot R.F., Ansor, Nurhuda M., Kousi, Maria, Yue, Wyatt W., Tan, Perciliz L., Clarkson, Katie, Clayton-Smith, Jill, Corning, Ken, Jones, Julie R., Lam, Wayne W.K., Mancini, Grazia M.S., Marcelis, Carlo, Mohammed, Shehla, Pfundt, Rolph, Roifman, Maian, Cohn, Ronald, Chitayat, David, Millard, Tom H., Katsanis, Nicholas, Brunner, Han G., Banka, Siddharth

    Cyhoeddwyd 2017
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  16. 16
    Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

    Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect gan Fassihi, Hiva, Sethi, Mieran, Fawcett, Heather, Wing, Jonathan, Chandler, Natalie, Mohammed, Shehla, Craythorne, Emma, Morley, Ana M. S., Lim, Rongxuan, Turner, Sally, Henshaw, Tanya, Garrood, Isabel, Giunti, Paola, Hedderly, Tammy, Abiona, Adesoji, Naik, Harsha, Harrop, Gemma, McGibbon, David, Jaspers, Nicolaas G. J., Botta, Elena, Nardo, Tiziana, Stefanini, Miria, Young, Antony R., Sarkany, Robert P. E., Lehmann, Alan R.

    Cyhoeddwyd 2016
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  17. 17
    Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signaling to regulation of osteogenesis

    Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signaling to regulation of osteogenesis gan Twigg, Stephen R F, Vorgia, Elena, McGowan, Simon J, Peraki, Ioanna, Fenwick, Aimée L, Sharma, Vikram P, Allegra, Maryline, Zaragkoulias, Andreas, Akha, Elham Sadighi, Knight, Samantha J L, Lord, Helen, Lester, Tracy, Izatt, Louise, Lampe, Anne K, Mohammed, Shehla N, Stewart, Fiona J, Verloes, Alain, Wilson, Louise C, Healy, Chris, Sharpe, Paul T, Hammond, Peter, Hughes, Jim, Taylor, Stephen, Johnson, David, Wall, Steven A, Mavrothalassitis, George, Wilkie, Andrew O M

    Cyhoeddwyd 2013
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  18. 18
    Clinical and molecular consequences of disease-associated de novo mutations in SATB2

    Clinical and molecular consequences of disease-associated de novo mutations in SATB2 gan Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.

    Cyhoeddwyd 2017
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  19. 19
    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy gan Cullup, Thomas, Kho, Ay L., Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A., Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F., Wijburg, Frits A., Hoedt, Amber E. ten, Rogers, Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M., Windpassinger, Christian, Filloux, Francis M., Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A., Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz

    Cyhoeddwyd 2012
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  20. 20
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum gan Banka, Siddharth, Veeramachaneni, Ratna, Reardon, William, Howard, Emma, Bunstone, Sancha, Ragge, Nicola, Parker, Michael J, Crow, Yanick J, Kerr, Bronwyn, Kingston, Helen, Metcalfe, Kay, Chandler, Kate, Magee, Alex, Stewart, Fiona, McConnell, Vivienne P M, Donnelly, Deirdre E, Berland, Siren, Houge, Gunnar, Morton, Jenny E, Oley, Christine, Revencu, Nicole, Park, Soo-Mi, Davies, Sally J, Fry, Andrew E, Lynch, Sally Ann, Gill, Harinder, Schweiger, Susann, Lam, Wayne W K, Tolmie, John, Mohammed, Shehla N, Hobson, Emma, Smith, Audrey, Blyth, Moira, Bennett, Christopher, Vasudevan, Pradeep C, García-Miñaúr, Sixto, Henderson, Alex, Goodship, Judith, Wright, Michael J, Fisher, Richard, Gibbons, Richard, Price, Susan M, C de Silva, Deepthi, Temple, I Karen, Collins, Amanda L, Lachlan, Katherine, Elmslie, Frances, McEntagart, Meriel, Castle, Bruce, Clayton-Smith, Jill, Black, Graeme C, Donnai, Dian

    Cyhoeddwyd 2012
    Cael y testun llawn Cael y testun llawn Cael y testun llawn
    Text
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:

Offerynnau Chwilio: