Kharbanda, Mira
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2

Poster presentationsSG11 KRT14 pathogenic or likely pathoge..:

Schirwani, Schaida ; Kharbanda, Mira
British Journal of Dermatology.  191 (2024)  Supplement_1 - p. i186-i187 , 2024
 
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5

Long QT syndrome and left ventricular noncompaction in 4 fa..:

Kharbanda, Mira ; Hunter, Amanda ; Tennant, Stephen...
European Journal of Medical Genetics.  60 (2017)  5 - p. 233-238 , 2017
 
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6

A further case of brain-lung-thyroid syndrome with deletion..:

Kharbanda, Mira ; Hermanns, Pia ; Jones, Jeremy...
European Journal of Medical Genetics.  60 (2017)  5 - p. 257-260 , 2017
 
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7

Clinical features associated with CTNNB1 de novo loss of fu..:

Kharbanda, Mira ; Pilz, Daniela T. ; Tomkins, Susan...
European Journal of Medical Genetics.  60 (2017)  2 - p. 130-135 , 2017
 
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8

Partial deletion of TCF4 in three generation family with no..:

Kharbanda, Mira ; Kannike, Kaja ; Lampe, Anne...
European Journal of Medical Genetics.  59 (2016)  6-7 - p. 310-314 , 2016
 
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10

ATP6V0C variants impair vacuolar V-ATPase causing a neurode..:

Mattison, Kari A ; Tossing, Gilles ; Mulroe, Fred...
Mattison , K A , Tossing , G , Mulroe , F , Simmons , C , Butler , K M , Schreiber , A , Alsadah , A , Neilson , D E , Naess , K , Wedell , A , Wredenberg , A , Sorlin , A , McCann , E , Burghel , G J , Menendez , B , Hoganson , G E , Botto , L D , Filloux , F M , Aledo-Serrano , Á , Gil-Nagel , A , Tatton-Brown , K , Verbeek , N E , van Hirtum-Das , M , Breckpot , J , Hammer , T B , Møller , R S , Whitney , A , Douglas , A G L , Kharbanda , M , Brunetti-Pierri , N , Morleo , M , Nigro , V , May , H J , Tao , J X , Argili , E , Sherr , E H , Dobyns , W B , Consortium , G E R , Baines , R A , Warwicker , J , Parker , J A , Banka , S , Campeau , P M & Escayg , A 2022 , ' ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy ' , Brain : a journal of neurology . https://doi.org/10.1093/brain/awac330.  , 2022
 
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13

Blood RNA analysis can increase clinical diagnostic rate an..:

Wai, Htoo A ; Lord, Jenny ; Lyon, Matthew...
Wai , H A , Lord , J , Lyon , M , Gunning , A , Kelly , H , Cibin , P , Seaby , E G , Spiers-Fitzgerald , K , Lye , J , Ellard , S , Thomas , N S , Bunyan , D J , Douglas , A G L , Baralle , D , Splicing and disease working group , Naik , S , Ragge , N , Cox , H , Morton , J E , O'Driscoll , M , Lim , D , Osio , D , Elmslie , F , Huber , C , Hewitt , J , Brandon , H , McEntagart , M , Mansour , S , Lahiri , N , Dempsey , E , Manalo , M , Homfray , T , Saggar , A , Li , J , Barwell , J , Chandler , K E , Briggs , T , Douzgou , S , Adlard , J , Kraus , A , Mehta , S , Watford , A , Donaldson , A , Low , K , Jones , G , Dixit , A , King , E , Shannon , N , Kaliakatsos , M , Manalo , M , Joss , S , Balasubramanian , M , Johnson , D , Everest , S , Salter , C , Harrison , V , Wise , G , Torokwa , A , Sands , V , Pyle , E , Thomas , T , Lachlan , K , Foulds , N , Lotery , A , Douglas , A G L , Hammans , S R , Pond , E , Horton , R , Kharbanda , M , Hunt , D , Thomas , C , Side ,....  , 2020
 
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14

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007.  , 2019
 
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15

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorde:

Carapito, Raphael ; Ivanova, Ekaterina L ; Morlon, Aurore...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.12.007.  , 2019
 
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