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/vufind/Search/Results?lookfor=%22Goel%2C+Himanshu%22&type=Person&sort=year
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PubPharm (119)
1
Modeling Ligand Binding Site Water Networks with Site-Identification by Ligand Competitive Saturation: Impact on Ligand Binding Orientations and Relative Binding Affinities
enthalten in:
chemRxiv.org
| 2024
von
Kumar, A.
|
Goel, H.
|
Yu, W.
| +2
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2
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
enthalten in:
NPJ genomic medicine
| 2024
von
Meester, J.
|
Hebert, A.
|
Bastiaansen, M.
| +43
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3
Probing Liver Injuries Induced by Thioacetamide in Human In Vitro Pooled Hepatocyte Experiments
enthalten in:
International journal of molecular sciences
| 2024
von
Goel, H.
|
Printz, R.
|
Pannala, V.
| +2
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4
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases
enthalten in:
bioRxiv.org
| 2024
von
Lesmann, H.
|
Hustinx, A.
|
Moosa, S.
| +80
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5
GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Lesmann, H.
|
Hustinx, A.
|
Moosa, S.
| +80
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6
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant
enthalten in:
Clinical dysmorphology
| 2024
von
Goel, H.
|
O'Donnell, S.
|
Roscioli, T.
| +1
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7
Efficient end-to-end simulation of time-dependent coherent X-ray scattering experiments
enthalten in:
Journal of synchrotron radiation
| 2024
von
Goel, H.
|
Chubar, O.
|
Li, R.
| +3
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8
Speech and language in DDX3X-neurodevelopmental disorder : A call for early augmentative and alternative communication intervention
enthalten in:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
| 2024
von
Forbes, E.
|
Morison, L.
|
Lelik, F.
| +8
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9
Expanding the phenotype of Kleefstra syndrome : speech, language and cognition in 103 individuals
enthalten in:
Journal of medical genetics
| 2024
von
Morison, L.
|
Kennis, M.
|
Rots, D.
| +14
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10
Genotype and phenotype correlation of PHACTR1-related neurological disorders
enthalten in:
Journal of medical genetics
| 2024
von
Xu, Z.
|
Sadleir, L.
|
Goel, H.
| +9
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American journal of medical genetics. Part A
6
European journal of medical genetics
6
Human mutation
5
Journal of medical genetics
5
bioRxiv.org
4
American Journal of Medical Genetics Part C: Se...
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Clinical dysmorphology
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Nature genetics
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European journal of haematology
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International journal of molecular sciences
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Journal of Cardiac Surgery
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Journal of cardiac surgery
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Journal of chemical theory and computation
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Molecular psychiatry
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Thema
73
Journal Article
24
Research Support, Non-U.S. Gov't
22
Case Reports
7
intellectual disability
5
Transcription Factors
4
Ataxia
4
Genomic deletion
4
Research Support, N.I.H., Extramural
4
SCA8
4
exome sequencing
3
Comment
3
EC 2.1.1.43
3
Epilepsy
3
Letter
3
Repressor Proteins
3
developmental delay
3
genetics
3
microcephaly
2
570
2
63231-63-0
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2020-
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2010-2019
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2000-2009
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