Autor: "Holder, Susan" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: The clinical presentation caused by truncating CHD8 variants.
Autorzy:: Douzgou, Sofia (AUTHOR)
Liang, Hui Wen (AUTHOR)
Metcalfe, Kay (AUTHOR)
Somarathi, Suresh (AUTHOR)
Tischkowitz, Marc (AUTHOR)
Mohamed, Wafik (AUTHOR)
Kini, Usha (AUTHOR)
McKee, Shane (AUTHOR)
Yates, Laura (AUTHOR)
Bertoli, Marta (AUTHOR)
Lynch, Sally Ann (AUTHOR)
Holder, Susan (AUTHOR)
Banka, Siddharth (AUTHOR); Pokaż więcej
Temat:: AUTISM spectrum disorders
DNA helicases
DNA-binding proteins
INTELLECTUAL disabilities
FACE
DEVELOPMENTAL delay
Źródło:: Clinical Genetics. Jul2019, Vol. 96 Issue 1, p72-84. 13p. 1 Color Photograph, 2 Charts.

Czasopismo naukowe

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Skocz do pozycji: 2.

Tytuł:: De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Autorzy:: Zawerton, Ash
Yao, Baojin
Yeager, J. Paige
Pippucci, Tommaso
Haseeb, Abdul
Smith, Joshua D.
Wischmann, Lisa
Kühl, Susanne J.
Dean, John C.S.
Pilz, Daniela T.
Holder, Susan E.
McNeill, Alisdair
Graziano, Claudio
Lefebvre, Véronique; Pokaż więcej
Temat:: MUSCLE dysmorphia
TRANSCRIPTION factors
DEVELOPMENTAL neurobiology
INTELLECTUAL disabilities
XENOPUS
Źródło:: American Journal of Human Genetics. Feb2019, Vol. 104 Issue 2, p246-259. 14p.

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Skocz do pozycji: 3.

Tytuł:: BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Autorzy:: Dias, Cristina
Estruch, Sara B.
Graham, Sarah A.
McRae, Jeremy
Sawiak, Stephen J.
Hurst, Jane A.
Joss, Shelagh K.
Holder, Susan E.
Morton, Jenny E.V.
Turner, Claire
Thevenon, Julien
Mellul, Kelly
Sánchez-Andrade, Gabriela
Ibarra-Soria, Ximena
Deriziotis, Pelagia
Santos, Rui F.
Lee, Song-Choon
Faivre, Laurence
Kleefstra, Tjitske
Liu, Pentao; Pokaż więcej
Temat:: INTELLECTUAL disabilities
GENETIC mutation
GENETIC transcription regulation
ETIOLOGY of diseases
NUCLEOTIDE sequencing
NEURAL development
CHROMATIN-remodeling complexes
GENETICS
Źródło:: American Journal of Human Genetics. Aug2016, Vol. 99 Issue 2, p253-274. 22p.

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Skocz do pozycji: 4.

Tytuł:: De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability.
Autorzy:: Grozeva, Detelina
Carss, Keren
Spasic-Boskovic, Olivera
Parker, Michael?J.
Archer, Hayley
Firth, Helen?V.
Park, Soo-Mi
Canham, Natalie
Holder, Susan?E.
Wilson, Meredith
Hackett, Anna
Field, Michael
Floyd, James?A.B.
Hurles, Matthew
Raymond, F.?Lucy; Pokaż więcej
Temat:: METHYLTRANSFERASES
DELETION mutation
INTELLECT & genetics
COHORT analysis
NONSENSE mutation
GENETIC mutation
DOMINANCE (Genetics)
Źródło:: American Journal of Human Genetics. Apr2014, Vol. 94 Issue 4, p618-624. 7p.

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Szczegóły

Skocz do pozycji: 5.

Tytuł:: Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
Autorzy:: Krawitz, Peter M.
Murakami, Yoshiko
Hecht, Jochen
Krüger, Ulrike
Holder, Susan E.
Mortier, Geert R.
Delle Chiaie, Barbara
De Baere, Elfride
Thompson, Miles D.
Roscioli, Tony
Kielbasa, Szymon
Kinoshita, Taroh
Mundlos, Stefan
Robinson, Peter N.
Horn, Denise; Pokaż więcej
Temat:: GENETIC mutation
GLYCOSYLPHOSPHATIDYLINOSITOL
INTELLECTUAL disabilities
AUTOSOMAL recessive polycystic kidney
MUSCLE dysmorphia
ALKALINE phosphatase
MEMBRANE proteins
Źródło:: American Journal of Human Genetics. Jul2012, Vol. 91 Issue 1, p146-151. 6p.

Czasopismo naukowe

Szczegóły

Skocz do pozycji: 6.

Tytuł:: De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
Autorzy:: Simpson, Michael A.
Deshpande, Charu
Dafou, Dimitra
Vissers, Lisenka E.L.M.
Woollard, Wesley J.
Holder, Susan E.
Gillessen-Kaesbach, Gabriele
Derks, Ronny
White, Susan M.
Cohen-Snuijf, Ruthy
Kant, Sarina G.
Hoefsloot, Lies H.
Reardon, Willie
Brunner, Han G.
Bongers, Ernie M.H.F.
Trembath, Richard C.; Pokaż więcej
Temat:: GENETIC mutation
HISTONES
ACETYLTRANSFERASES
SKELETAL dysplasia
GENITAL abnormalities
EXONS (Genetics)
NUCLEOTIDE sequence
Źródło:: American Journal of Human Genetics. Feb2012, Vol. 90 Issue 2, p290-294. 5p.

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