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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1637 - 1641
Coffin–Siris syndrome (CSS) is a clinically and genetically heterogeneous developmental disorder, linked to disruption of the BAF chromatin‐remodeling complex.... 
exome sequencing | Coffin–Siris syndrome | developmental disorders | clinical genetics | HISTONE-BINDING | REQUIEM | SWI/SNF COMPLEX | FINGER | Coffin-Siris syndrome | GENETICS & HEREDITY | COMPONENTS | MUTATIONS | Hernia | Glycine | Analysis | Medical genetics | Toenail | Chromatin remodeling | Amino acid substitution
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2892 - 2895
Multiple self‐healing squamous epithelioma (MSSE, Ferguson‐Smith disease) and Loeys‐Dietz syndrome (LDS) are allelic conditions associated with pathogenic... 
Ferguson‐Smith disease | multiple self‐healing squamous epithelioma | Loeys‐Dietz syndrome | TGFBR1 | Loeys-Dietz syndrome | Ferguson-Smith disease | multiple self-healing squamous epithelioma | ANEURYSMS | GENETICS & HEREDITY | FERGUSON-SMITH | KERATOACANTHOMA | MUTATIONS | SPECTRUM
Journal Article
Journal Article
Cerebellum & Ataxias, ISSN 2053-8871, 12/2019, Volume 6, Issue 1, pp. 1 - 4
Mutations in the Inositol 1,4,5-Trisphosphate Receptor Type 1 (ITPR1) gene cause spinocerebellar ataxia type 29 (SCA29), a rare congenital-onset autosomal... 
Maoris | Usage | Care and treatment | Spinocerebellar ataxia | Distribution | Genetic aspects | Nucleotide sequencing | Health aspects | Risk factors | DNA sequencing | Gait disorders/ataxia | Māori | SCA29 | Spinocerebellar Ataxia | Neurogenetics | Cerebellar Ataxia
Journal Article
by Ansari, Morad and Poke, Gemma and Ferry, Quentin and Williamson, Kathleen and Aldridge, Roland and Meynert, Alison M and Bengani, Hemant and Chan, Cheng Yee and Kayserili, Hülya and Avci, Şahin and Hennekam, Raoul C M and Lampe, Anne K and Redeker, Egbert and Homfray, Tessa and Ross, Alison and Falkenberg Smeland, Marie and Mansour, Sahar and Parker, Michael J and Cook, Jacqueline A and Splitt, Miranda and Fisher, Richard B and Fryer, Alan and Magee, Alex C and Wilkie, Andrew and Barnicoat, Angela and Brady, Angela F and Cooper, Nicola S and Mercer, Catherine and Deshpande, Charu and Bennett, Christopher P and Pilz, Daniela T and Ruddy, Deborah and Cilliers, Deirdre and Johnson, Diana S and Josifova, Dragana and Rosser, Elisabeth and Thompson, Elizabeth M and Wakeling, Emma and Kinning, Esther and Stewart, Fiona and Flinter, Frances and Girisha, Katta M and Cox, Helen and Firth, Helen V and Kingston, Helen and Wee, Jamie S and Hurst, Jane A and Clayton-Smith, Jill and Tolmie, John and Vogt, Julie and Tatton–Brown, Katrina and Chandler, Kate and Prescott, Katrina and Wilson, Louise and Behnam, Mahdiyeh and McEntagart, Meriel and Davidson, Rosemarie and Lynch, Sally-Ann and Sisodiya, Sanjay and Mehta, Sarju G and McKee, Shane A and Mohammed, Shehla and Holden, Simon and Park, Soo-Mi and Holder, Susan E and Harrison, Victoria and McConnell, Vivienne and Lam, Wayne K and Green, Andrew J and Donnai, Dian and Bitner-Glindzicz, Maria and Donnelly, Deirdre E and Nellåker, Christoffer and Taylor, Martin S and FitzPatrick, David R
Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Journal Article
Human Mutation, ISSN 1059-7794, 01/2017, Volume 38, Issue 1, pp. 7 - 15
Journal Article
Case reports in neurological medicine, ISSN 2090-6668, 2018, Volume 2018, pp. 5802650 - 3
Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a... 
Ataxia | Nervous system diseases | Genetic screening | Genotype & phenotype | Intellectual disabilities | Genetics | Genomes | Mutation | Patients | Vertigo
Journal Article
Stem Cell Research, ISSN 1873-5061, 10/2019, Volume 40, p. 101547
loss-of-function pathogenic variants cause IDDCA, a rare autosomal recessive human genetic disease characterized by infantile onset of intellectual disability,... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Genetic disorders | Genetic variation | Growth | Stem cells | Genetic aspects | Diagnosis | Health aspects
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 502 - 510
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1980 - 1994
Journal Article
Modern Pathology, ISSN 0893-3952, 07/2018, Volume 31, Issue 7, pp. 1116 - 1130
Journal Article