Jain, Vani
70  Ergebnisse:
Personensuche X
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1

Börjeson–Forssman–Lehmann syndrome: delineating the clinica..:

Jain, Vani ; Foo, Seow Hoong ; Chooi, Stephen...
European Journal of Human Genetics.  31 (2023)  12 - p. 1421-1429 , 2023
 
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3

Further delineation of the clinical spectrum of White–Sutto..:

Murch, Oliver ; Jain, Vani ; Benneche, Andreas...
European Journal of Human Genetics.  30 (2021)  1 - p. 95-100 , 2021
 
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5

Dementia and its genes:

Jain, Vani ; Duffin, Donna ; Angus Clarke, Professor
InnovAiT: Education and inspiration for general practice.  13 (2020)  6 - p. 365-373 , 2020
 
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8

Cerebral cavernous malformation: Clinical report of two fam..:

Balasubramanian, Meena ; Jain, Vani ; Glover, Rhona C...
European Journal of Paediatric Neurology.  17 (2013)  6 - p. 661-665 , 2013
 
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9

Huntington's Disease:

Jain, Vani ; Vasudevan, Pradeep ; Abbott, Richard
InnovAiT: Education and inspiration for general practice.  5 (2012)  11 - p. 660-668 , 2012
 
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11

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-00981-2.  , 2021
 
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12

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-00981-2.  , 2021
 
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13

Genetic testing in motor neuron disease and frontotemporal ..:

Cairns, Lauren ; Rankin, Julia ; Hamad, Asma...
https://eprints.soton.ac.uk/448880/1/jmedgenet_2021_107776.R1_Proof_hi.pdf.  , 2021
 
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14

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
Lenaerts , L , Reynhout , S , Verbinnen , I , Laumonnier , F , Toutain , A , Bonnet-Brilhault , F , Hoorne , Y , Joss , S , Chassevent , A K , Smith-Hicks , C , Loeys , B , Joset , P , Steindl , K , Rauch , A , Mehta , S G , Chung , W K , Devriendt , K , Holder , S E , Jewett , T , Baldwin , L M , Wilson , W G , Towner , S , Srivastava , S , Johnson , H F , Daumer-Haas , C , Baethmann , M , Ruiz , A , Gabau , E , Jain , V , Varghese , V , Al-Beshri , A , Fulton , S , Wechsberg , O , Orenstein , N , Prescott , K , Childs , A-M , Faivre , L , Moutton , S , Sullivan , J A , Shashi , V , Koudijs , S M , Heijligers , M , Kivuva , E , McTague , A , Male , A , van Ierland , Y , Plecko , B , Maystadt , I , Hamid , R , Hannig , V L , Houge , G & Janssens , V 2021 , ' The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction ' , Genetics in Medicine , vol. 23 , no. 2 , pp. 352-362 . https://doi.org/10.1038....  , 2021
 
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15

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-00981-2.  , 2021
 
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