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Turnpenny, Peter D
198
results:
Search for persons
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Online (198)
Mediatypes
Articles (Online) (85)
Bookchapter (Online) (1)
OpenAccess-fulltext (112)
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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/..
?
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/..
?
3
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/..
?
4
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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5
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/..
?
6
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/..
?
7
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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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
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/..
?
10
Natural history of NF1 c.2970_2972del p.(Met992del): confir..:
Forde, Claire
;
Burkitt-Wright, Emma
;
Turnpenny, Peter D.
...
European Journal of Human Genetics. 30 (2021) 3 - p. 291-297 , 2021
Link:
https://doi.org/10.1038/..
?
11
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/..
?
12
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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13
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/..
?
14
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/..
?
15
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/..
1-15