Kirsty Mcwalter


AuthID: R-00J-MJV

Publicações a aguardar confirmação

1
TÍTULO: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition  Full Text
AUTORES: Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza Londono, Roberto; Dudding Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R. ; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.; ...Mais
PUBLICAÇÃO: 2022, FONTE: MOLECULAR PSYCHIATRY, VOLUME: 28, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef: 18
2
TÍTULO: Rare SUZ12 variants commonly cause an overgrowth phenotype  Full Text
AUTORES: Sharri S Cyrus; Ana S A Cohen; Ruky Agbahovbe; Kristiina Avela; Kit S Yeung; Brian H Y Chung; Ho Ming Luk; Nataliya Tkachenko; Sanaa Choufani; Rosanna Weksberg; Elena Lopez Rangel; Kathleen Brown; Margarita S Saenz; Shayna Svihovec; Shawn E McCandless; Lynne M Bird; Aixa G Garcia; Michael J Gambello; Kirsty McWalter; Rhonda E Schnur; Jianghong H An; Steven J M Jones; Sanjiv K Bhalla; Hailey Pinz; Stephen R Braddock; William T Gibson; ...Mais
PUBLICAÇÃO: 2019, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
INDEXADO EM: Scopus WOS

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