Hakutulokset - Mohammed Shehla

Tarkenna hakua
  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 Tekijä Devito, Liani G., Healy, Lyn, Mohammed, Shehla, Guillemot, Francois, Dias, Cristina

    Julkaistu 2021
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  2. 2
    Clinical utility gene card for: Vici Syndrome

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

    Julkaistu 2014
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä Ahn, Joo Wook, Mann, Kathy, Walsh, Sally, Shehab, Marwa, Hoang, Sarah, Docherty, Zoe, Mohammed, Shehla, Mackie Ogilvie, Caroline

    Julkaistu 2010
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä Irving, Melita D., Buiting, Karin, Kanber, Deniz, Donaghue, Celia, Schulz, Reiner, Offiah, Amaka, Mohammed, Shehla N., Oakey, Rebecca J.

    Julkaistu 2010
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä Ahn, Joo Wook, Bint, Susan, Irving, Melita D., Kyle, Phillipa M., Akolekar, Ranjit, Mohammed, Shehla N., Mackie Ogilvie, Caroline

    Julkaistu 2014
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä Millar, David S, Tysoe, Carolyn, Lazarou, Lazarus P, Pilz, Daniela T, Mohammed, Shehla, Anderson, Katharine, Chuzhanova, Nadia, Cooper, David N, Butler, Rachel

    Julkaistu 2010
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  7. 7
    Detection of structural mosaicism from targeted and whole-genome sequencing data

    Detection of structural mosaicism from targeted and whole-genome sequencing data Tekijä 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

    Julkaistu 2017
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  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... Tekijä 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

    Julkaistu 2009
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä 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

    Julkaistu 2015
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  10. 10
    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

    Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome Tekijä 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.

    Julkaistu 2017
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  11. 11
    Clinical expression of Menkes disease in females with normal karyotype

    Clinical expression of Menkes disease in females with normal karyotype Tekijä 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

    Julkaistu 2012
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä 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

    Julkaistu 2012
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä 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

    Julkaistu 2018
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä 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

    Julkaistu 2011
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  15. 15
    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

    RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes Tekijä 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

    Julkaistu 2017
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä 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.

    Julkaistu 2016
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä 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

    Julkaistu 2013
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä 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.

    Julkaistu 2017
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä 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

    Julkaistu 2012
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:
  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 Tekijä 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

    Julkaistu 2012
    Hae kokoteksti Hae kokoteksti Hae kokoteksti
    Teksti
    Lisää suosikkeihin
    Tallennettuna:

Työkalut: