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1
‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandemic in the UK

von Wolstencroft, J ; Hull, L ; Warner, L ; et al.
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2
Psychopathology in mothers of children with pathogenic Copy Number Variants

von Niarchou, M ; Cunningham, AC ; Chawner, SJRA ; et al.
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3
Ground-Based Cloud Type Classification for Aviation Weather Hazard Detection Using Deep Learning

von Marcus P. Cote ; Michael E. Splitt ; Steven M. Lazarus ; et al.

IEEE Access, Vol 13, Pp 203027-203040 (2025)

Schlagworte: Aviation meteorology; convolutional neural network (CNN); deep learning; ground-based cloud image classification; Electrical engineering. Electronics. Nuclear engineering; TK1-9971
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4
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

von Marie Bernkopf ; Ummi B. Abdullah ; Stephen J. Bush ; et al.

Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)

Schlagworte: Science
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5
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

von Rots, D. ; Jakub, T. E. ; Keung, C. ; et al.
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6
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

von Fitzgerald, T.W. ; Gerety, S.S. ; Jones, W.D. ; et al.

In The American Journal of Human Genetics 7 November 2019 105(5):933-946
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7
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

von Jain V ; Foo SH ; Chooi S ; et al.

European Journal of Human Genetics, 2023
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8
The phenotypic continuum of ATP1A3-related disorders

von Vezyroglou, A ; Akilapa, R ; Barwick, K ; et al.
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9
The phenotypic continuum of ATPLA3-related disorders

von Vezyroglou, A. ; Akilapa, R. ; Barwick, K. ; et al.
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10
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

von Choufani S. ; Gibson W. T. ; Turinsky A. L. ; et al.

Schlagworte: DNA methylation signature; EED; intellectual disability; overgrowth syndrome; SUZ12; Abnormalities; Multiple; Adolescent; Adult; Child; Preschool; Cohort Studie; Congenital Hypothyroidism; Craniofacial Abnormalitie; Enhancer of Zeste Homolog 2 Protein; Female; Hand Deformities; Congenital; Human; Infant; Male; Mosaicism; Mutation; Missense; Polycomb Repressive Complex 2; Reproducibility of Result; Young Adult; DNA Methylation; Settore BIO/11 - Biologia Molecolare; Settore BIO/18 - Genetica
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11
Miniaturized high-temperature superconductor microstrip patch antenna

von Chaloupka, H. ; Klein, N. ; Peiniger, M. ; et al.

IEEE Transactions on Microwave Theory and Techniques IEEE Trans. Microwave Theory Techn. Microwave Theory and Techniques, IEEE Transactions on. 39(9):1513-1521 Sep, 1991
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12
Guidelines for design of electromagnetically coupled microstrip patch antennas on two-layer substrates

von Splitt, G. ; Davidovitz, M.

IEEE Transactions on Antennas and Propagation IEEE Trans. Antennas Propagat. Antennas and Propagation, IEEE Transactions on. 38(7):1136-1140 Jul, 1990
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13
De novo variants in CNOT3 cause a variable neurodevelopmental disorder

von Martin, R. ; Splitt, M. ; Genevieve, D. ; et al.

European Journal of Human Genetics. 27(11):1677-1682
- Zum Volltext in PubMed Central
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14
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

von Coppens, S. ; Deconinck, N. ; Sullivan, P. ; et al.

Schlagworte: Humans; Female; Male; Connectin/genetics; Infant; Newborn; Child; Preschool; Adult; Adolescent; Severity of Illness Index; Muscle; Skeletal/pathology/metabolism
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15
Design guidelines for circular polarised microstrip antennas

von Franz, M ; Splitt, G. ; Heinstadt, J ; et al.

1995 25th European Microwave Conference Microwave Conference, 1995. 25th European. 1:48-54 Sep, 1995
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16
The contribution of X-linked coding variation to severe developmental disorders

von Martin HC ; Gardner EJ ; Samocha KE ; et al.

Nature Communications, December 2021
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17
Regulation of Root Angle and Gravitropism

von Ted W. Toal ; Mily Ron ; Donald Gibson ; et al.

G3: Genes, Genomes, Genetics, Vol 8, Iss 12, Pp 3841-3855 (2018)

Schlagworte: gravitropism; root; tomato; Genetics; QH426-470
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18
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

von Choufani, S ; Gibson, WT ; Turinsky, AL ; et al.
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19
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

von Evans, D.G. ; Bowers, N. ; Burkitt-Wright, E. ; et al.

In EBioMedicine May 2016 7:212-220
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20
Different mutations in DEAF1 lead to clinically distinct dominant and recessive forms of intellectual disability

von Sa, MJ Nabais ; Jensik, PJ ; Parker, MJ ; et al.

urn:ISSN:1018-4813 ; urn:ISSN:1476-5438 ; 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 2018-06-16 - 2018-06-19

Schlagworte: anzsrc-for: 0604 Genetics; anzsrc-for: 1103 Clinical Sciences; anzsrc-for: 3105 Genetics; anzsrc-for: 3202 Clinical sciences
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21
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

von Low, KJ ; Stals, K ; Caswell, R ; et al.

European Journal of Human Genetics. 26(6):796-807
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22
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

von Aitken S ; Firth HV ; McRae J ; et al.

American Journal of Human Genetics, 7 November 2019
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23
Finding diagnostically useful patterns in quantitative phenotypic data

von Aitken, S ; Firth, HV ; McRae, J ; et al.
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24
De novo and biallelic DEAF1 variants cause a phenotypic spectrum

von Nabais Sá, MJ ; Jensik, PJ ; McGee, SR ; et al.

urn:ISSN:1098-3600 ; urn:ISSN:1530-0366 ; Genetics in Medicine, 21, 9, 2059-2069

Schlagworte: 31 Biological Sciences; 3105 Genetics; Neurosciences; Intellectual and Developmental Disabilities (IDD); Mental Health; Brain Disorders; Clinical Research; Genetics; 2.1 Biological and endogenous factors; Adolescent; Adult; Alleles; Autistic Disorder; Child; Preschool; DNA-Binding Proteins; Developmental Disabilities; Exome; Female; Genetic Association Studies; Humans; Intellectual Disability; Language Development Disorders; Male; Microcephaly; Mutation; Missense; Transcription Factors; Young Adult; DEAF1
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25
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

von van der Sluijs, E ; Jansen, S ; Vergano, SA ; et al.

Schlagworte: ARID1B; Coffin–Siris syndrome; Intellectual disability; Bias
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