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Turnpenny, Peter D.
198  results:
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1

Pigment epithelium derived factor drives melanocyte prolife..:

Lovatt, Charlotte ; Williams, Megan ; Gibbs, Alex...
Skin Health and Disease.  , 2024
Link: https://doi.org/10.1002/..
 
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2

TECPR2‐related hereditary sensory and autonomic neuropathy ..:

Khalaf‐Nazzal, Reham ; Dweikat, Imad ; Ubeyratna, Nishanka...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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3

Clustered variants in the 5′ coding region of TRA2B cause a..:

Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona...
Genetics in Medicine.  25 (2023)  4 - p. 100003 , 2023
Link: https://doi.org/10.1016/..
 
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4

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, James ; Huebner, Antje K ; Liebmann, Lutz...
Brain.  146 (2023)  11 - p. 4547-4561 , 2023
Link: https://doi.org/10.1093/..
 
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5

Neurodevelopmental outcomes in children and adults with Fet..:

Bluett-Duncan, Matthew ; Astill, Denise ; Charbak, Rana...
Neurotoxicology and Teratology.  98 (2023)  - p. 107201 , 2023
Link: https://doi.org/10.1016/..
 
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6

Bi-allelic CAMSAP1 variants cause a clinically recognizable..:

Khalaf-Nazzal, Reham ; Fasham, James ; Inskeep, Katherine A....
The American Journal of Human Genetics.  109 (2022)  11 - p. 2068-2079 , 2022
Link: https://doi.org/10.1016/..
 
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7

Expanding the phenotype of TAB2 variants and literature rev..:

Woods, Emily ; Marson, Imogen ; Coci, Emanuele...
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3331-3342 , 2022
Link: https://doi.org/10.1002/..
 
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8

Understanding the new BRD4‐related syndrome: Clinical and g..:

Jouret, Guillaume ; Heide, Solveig ; Sorlin, Arthur...
Clinical Genetics.  102 (2022)  2 - p. 117-122 , 2022
Link: https://doi.org/10.1111/..
 
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9

The Phenotypic Continuum ofATP1A3-Related Disorders:

Vezyroglou, Aikaterini ; Akilapa, Rhoda ; Barwick, Katy...
Neurology.  99 (2022)  14 - p. , 2022
Link: https://doi.org/10.1212/..
 
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10

Consolidating biallelic SDHD variants as a cause of mitocho..:

Lin, Siying ; Fasham, James ; Al-Hijawi, Fida'...
European Journal of Human Genetics.  29 (2021)  10 - p. 1570-1576 , 2021
Link: https://doi.org/10.1038/..
 
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11

PTPN4 germline variants result in aberrant neurodevelopment..:

Chmielewska, Joanna J. ; Burkardt, Deepika ; Granadillo, Jorge Luis...
Human Genetics and Genomics Advances.  2 (2021)  3 - p. 100033 , 2021
Link: https://doi.org/10.1016/..
 
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12

Further delineation of phenotypic spectrum of SCN2A‐related..:

Richardson, Ruth ; Baralle, Diana ; Bennett, Christopher...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 867-877 , 2021
Link: https://doi.org/10.1002/..
 
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13

Delineating the Smith‐Kingsmore syndrome phenotype: Investi..:

Poole, Rebecca L. ; Curry, Philippa D. K. ; Marcinkute, Ruta...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2445-2454 , 2021
Link: https://doi.org/10.1002/..
 
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14

Final Exon Frameshift Biallelic PTPN23 Variants Are Associa..:

Khalaf-Nazzal, Reham ; Fasham, James ; Ubeyratna, Nishanka...
Brain Sciences.  11 (2021)  5 - p. 614 , 2021
Link: https://doi.org/10.3390/..
 
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15

Disruption of RFX family transcription factors causes autis..:

Harris, Holly K. ; Nakayama, Tojo ; Lai, Jenny...
Genetics in Medicine.  23 (2021)  6 - p. 1028-1040 , 2021
Link: https://doi.org/10.1038/..
 
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