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Arold, Stefan T.
441  results:
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1

Clinical genomics expands the link between erroneous cell d..:

Saima ; Khan, Amjad ; Ali, Sajid...
Neurogenetics.  , 2024
Link: https://doi.org/10.1007/..
 
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2

Homozygosity for a Rare Plec Variant Suggests a Contributor..:

Kantaputra, Piranit ; Daroontum, Teerada ; Kitiyamas, Kantapong...
International Journal of Molecular Sciences.  25 (2024)  12 - p. 6358 , 2024
Link: https://doi.org/10.3390/..
 
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3

Protein function prediction as approximate semantic entailm..:

Kulmanov, Maxat ; Guzmán-Vega, Francisco J. ; Duek Roggli, Paula...
Nature Machine Intelligence.  , 2024
Link: https://doi.org/10.1038/..
 
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4

Novel Homozygous Variants of SLC13A5 Expand the Functional ..:

Alsemari, Abdulaziz ; Guzmán-Vega, Francisco J. ; Meyer, Brian F..
Pediatric Neurology.  151 (2024)  - p. 68-72 , 2024
Link: https://doi.org/10.1016/..
 
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5

An Amphiphilic Cell‐Penetrating Macrocycle for Efficient Cy..:

Qutub, Somayah S. ; Bhat, Imtiyaz Ahmad ; Maatouk, Batoul I....
Angewandte Chemie.  , 2024
Link: https://doi.org/10.1002/..
 
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6

An Amphiphilic Cell‐Penetrating Macrocycle for Efficient Cy..:

Qutub, Somayah S. ; Bhat, Imtiyaz Ahmad ; Maatouk, Batoul I....
Angewandte Chemie International Edition.  , 2024
Link: https://doi.org/10.1002/..
 
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7

Further delineation of Wiedemann‐Rautenstrauch syndrome lin..:

Khan, Amjad ; Al Shamsi, Bushra ; Al Shehhi, Maryam...
Molecular Genetics & Genomic Medicine.  12 (2024)  3 - p. , 2024
Link: https://doi.org/10.1002/..
 
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8

Leveraging AI Advances and Online Tools for Structure‐Based..:

Guzmán‐Vega, Francisco J. ; González‐Álvarez, Ana C. ; Peña‐Guerra, Karla A...
Current Protocols.  3 (2023)  8 - p. , 2023
Link: https://doi.org/10.1002/..
 
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9

The combined action of the intracellular regions regulates ..:

Lin, Chi-Chuan ; Wieteska, Lukasz ; Poncet-Montange, Guillaume...
Communications Biology.  6 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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10

Expanding the phenotypic and genotypic spectrum of GGPS1 re..:

Altassan, Ruqaiah ; AlQudairy, Hanan ; AlJebreen, Sarah...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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11

Essential role of the CD docking motif of MPK4 in plant imm..:

Siodmak, Anna ; Shahul Hameed, Umar F. ; Rayapuram, Naganand...
New Phytologist.  239 (2023)  3 - p. 1112-1126 , 2023
Link: https://doi.org/10.1111/..
 
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12

Expanding the genotype-phenotype landscape of PDE10A-associ..:

Bohlega, Saeed ; Abusrair, Ali H. ; Al-Qahtani, Zainah...
Parkinsonism & Related Disorders.  108 (2023)  - p. 105323 , 2023
Link: https://doi.org/10.1016/..
 
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13

An open-source, automated, and cost-effective platform for ..:

Ramos-Mandujano, Gerardo ; Grünberg, Raik ; Zhang, Yingzi...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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14

SHQ1-associated neurodevelopmental disorder: Report of the ..:

AlHargan, Aljouhra ; AlMuhaizea, Mohammed A. ; Almass, Rawan...
Human Genome Variation.  10 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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15

Genetic Variants in Protein Tyrosine Phosphatase Non-Recept..:

Adisornkanj, Ploy ; Chanprasit, Rajit ; Eliason, Steven...
Biology.  12 (2023)  3 - p. 393 , 2023
Link: https://doi.org/10.3390/..
 
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