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Search Results - Shur, Natasha E.
Search Results - Shur, Natasha E.
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Ehlers–Danlos syndrome: what the radiologist needs to know
by
George, Michael P.
,
Shur, Natasha E.
,
Peréz-Rosselló, Jeannette M.
Published in
Pediatric radiology
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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
by
Woerden, Geeske M.
,
Bos, Melanie
,
Konink, Charlotte
,
Distel, Ben
,
Avagliano Trezza, Rossella
,
Shur, Natasha E.
,
Barañano, Kristin
,
Mahida, Sonal
,
Chassevent, Anna
,
Schreiber, Allison
,
Erwin, Angelika L.
,
Gripp, Karen W.
,
Rehman, Fatima
,
Brulleman, Saskia
,
McCormack, Róisín
,
Geus, Gwynna
,
Kalsner, Louisa
,
Sorlin, Arthur
,
Bruel, Ange‐Line
,
Koolen, David A.
,
Gabriel, Melissa K.
,
Rossi, Mari
,
Fitzpatrick, David R.
,
Wilkie, Andrew O.M.
,
Calpena, Eduardo
,
Johnson, David
,
Brooks, Alice
,
Slegtenhorst, Marjon
,
Fleischer, Julie
,
Groepper, Daniel
,
Lindstrom, Kristin
,
Innes, A. Micheil
,
Goodwin, Allison
,
Humberson, Jennifer
,
Noyes, Amanda
,
Langley, Katherine G.
,
Telegrafi, Aida
,
Blevins, Amy
,
Hoffman, Jessica
,
Guillen Sacoto, Maria J.
,
Juusola, Jane
,
Monaghan, Kristin G.
,
Punj, Sumit
,
Simon, Marleen
,
Pfundt, Rolph
,
Elgersma, Ype
,
Kleefstra, Tjitske
Published in
Human mutation
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Genetic causes of fractures and subdural hematomas: fact versus fiction
by
Shur, Natasha E.
,
Summerlin, Maxwell L.
,
McIntosh, Bruce J.
,
Shalaby-Rana, Eglal
,
Hinds, Tanya S.
Published in
Pediatric radiology
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Newborn screening for Krabbe disease in New York State: the first eight years’ experience
by
Orsini, Joseph J.
,
Kay, Denise M.
,
Saavedra-Matiz, Carlos A.
,
Wenger, David A.
,
Duffner, Patricia K.
,
Erbe, Richard W.
,
Biski, Chad
,
Martin, Monica
,
Krein, Lea M.
,
Nichols, Matthew
,
Kurtzberg, Joanne
,
Escolar, Maria L.
,
Adams, Darius J.
,
Arnold, Georgianne L.
,
Iglesias, Alejandro
,
Galvin-Parton, Patricia
,
Kronn, David F.
,
Kwon, Jennifer M.
,
Levy, Paul A.
,
Pellegrino, Joan E.
,
Shur, Natasha
,
Wasserstein, Melissa P.
,
Caggana, Michele
Published in
Genetics in medicine
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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
by
Torti, Erin
,
Keren, Boris
,
Palmer, Elizabeth E.
,
Zhu, Zehua
,
Afenjar, Alexandra
,
Anderson, Ilse. J.
,
Andrews, Marisa V.
,
Atkinson, Celia
,
Au, Margaret
,
Berry, Susan A.
,
Bowling, Kevin M.
,
Boyle, Jackie
,
Buratti, Julien
,
Cathey, Sara S.
,
Charles, Perrine
,
Cogne, Benjamin
,
Courtin, Thomas
,
Escobar, Luis F.
,
Finley, Sabra Ledare
,
Graham, John M.
,
Grange, Dorothy K.
,
Heron, Delphine
,
Hewson, Stacy
,
Hiatt, Susan M.
,
Hibbs, Kathleen A.
,
Jayakar, Parul
,
Kalsner, Louisa
,
Larcher, Lise
,
Lesca, Gaetan
,
Mark, Paul R.
,
Miller, Kathryn
,
Nava, Caroline
,
Nizon, Mathilde
,
Pai, G. Shashidhar
,
Pappas, John
,
Parsons, Gretchen
,
Payne, Katelyn
,
Putoux, Audrey
,
Rabin, Rachel
,
Sabatier, Isabelle
,
Shinawi, Marwan
,
Shur, Natasha
,
Skinner, Steven A.
,
Valence, Stephanie
,
Warren, Hannah
,
Whalen, Sandra
,
Crunk, Amy
,
Douglas, Ganka
,
Monaghan, Kristin G.
,
Person, Richard E.
,
Willaert, Rebecca
,
Solomon, Benjamin D.
,
Juusola, Jane
Published in
Genetics in medicine
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
by
Petrovski, Slavé
,
Küry, Sébastien
,
Myers, Candace T.
,
Anyane-Yeboa, Kwame
,
Cogné, Benjamin
,
Bialer, Martin
,
Xia, Fan
,
Hemati, Parisa
,
Riviello, James
,
Mehaffey, Michele
,
Besnard, Thomas
,
Becraft, Emily
,
Wadley, Alexandrea
,
Politi, Anya Revah
,
Colombo, Sophie
,
Zhu, Xiaolin
,
Ren, Zhong
,
Andrews, Ian
,
Dudding-Byth, Tracy
,
Schneider, Amy L.
,
Wallace, Geoffrey
,
Rosen, Aaron B.I.
,
Schelley, Susan
,
Enns, Gregory M.
,
Corre, Pierre
,
Dalton, Joline
,
Mercier, Sandra
,
Latypova, Xénia
,
Schmitt, Sébastien
,
Guzman, Edwin
,
Moore, Christine
,
Bier, Louise
,
Heinzen, Erin L.
,
Karachunski, Peter
,
Shur, Natasha
,
Grebe, Theresa
,
Basinger, Alice
,
Nguyen, Joanne M.
,
Bézieau, Stéphane
,
Wierenga, Klaas
,
Bernstein, Jonathan A.
,
Scheffer, Ingrid E.
,
Rosenfeld, Jill A.
,
Mefford, Heather C.
,
Isidor, Bertrand
,
Goldstein, David B.
Published in
American journal of human genetics
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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
by
Lasio, M. Laura Duque
,
Leshinski, Angela C.
,
Ducich, Nicole H.
,
Flore, Leigh Anne
,
Lehman, April
,
Shur, Natasha
,
Jayakar, Parul B.
,
Hainline, Bryan E.
,
Basinger, Alice A.
,
Wilson, William G.
,
Diaz, George A.
,
Erbe, Richard W.
,
Koeberl, Dwight D.
,
Vockley, Jerry
,
Bedoyan, Jirair K.
Published in
Molecular genetics and metabolism
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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
by
Rosenfeld, Jill A
,
Traylor, Ryan N
,
Schaefer, G Bradley
,
McPherson, Elizabeth W
,
Ballif, Blake C
,
Klopocki, Eva
,
Mundlos, Stefan
,
Shaffer, Lisa G
,
Aylsworth, Arthur S
Published in
European journal of human genetics : EJHG
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
by
Mignot, Cyril
,
Mcmahon, Aoife
,
Bar, Claire
,
Campeau, Philippe
,
Davidson, David
,
Buratti, Julien
,
Nava, Caroline
,
Jacquemont, Marie-Line
,
Tallot, Marilyn
,
Milh, Mathieu
,
Edery, Patrick
,
Marzin, Pauline
,
Barcia, Giulia
,
Barnerias, Christine
,
Besmond, Claude
,
Bienvenu, Thierry
,
Bruel, Ange-Line
,
Brunga, Ledia
,
Ceulemans, Berten
,
Coubes, Christine
,
Cristancho, Ana
,
Cunningham, Fiona
,
Dehouck, Marie-Bertille
,
Donner, Elizabeth
,
Duban-Bedu, Bénédicte
,
Dubourg, Christèle
,
Gardella, Elena
,
Gauthier, Julie
,
Genevieve, David
,
Gobin-Limballe, Stéphanie
,
Goldberg, Ethan
,
Hagebeuk, Eveline
,
Hamdan, Fadi
,
Hančárová, Miroslava
,
Hubert, Laurence
,
Ioos, Christine
,
Ichikawa, Shoji
,
Janssens, Sandra
,
Journel, Hubert
,
Kaminska, Anna
,
Keren, Boris
,
Koopmans, Marije
,
Lacoste, Caroline
,
Laššuthová, Petra
,
Lederer, Damien
,
Lehalle, Daphne
,
Marjanovic, Dragan
,
Metreau, Julia
,
Michaud, Jacques
,
Miller, Kathryn
,
Minassian, Berge
,
Morales, Joannella
,
Moutard, Marie-Laure
,
Munnich, Arnold
,
Ortiz-Gonzalez, Xilma
,
Pinard, Jean-Marc
,
Prchalová, Darina
,
Putoux, Audrey
,
Quélin, Chloé
,
Rosen, Alyssa
,
Roume, Joëlle
,
Rossignol, Elsa
,
Simon, Marleen
,
Smol, Thomas
,
Shur, Natasha
,
Shelihan, Ivan
,
Štěrbová, Katalin
,
Vyhnálková, Emílie
,
Vilain, Catheline
,
Soblet, Julie
,
Smits, Guillaume
,
Yang, Samuel
,
van Der Smagt, Jasper
,
van Hasselt, Peter
,
van Kempen, Marjan
,
Weckhuysen, Sarah
,
Helbig, Ingo
,
Villard, Laurent
,
Héron, Delphine
,
Koeleman, Bobby
,
Møller, Rikke
,
Lesca, Gaetan
,
Helbig, Katherine L.
,
Nabbout, Rima
,
Verbeek, Nienke E.
,
Depienne, Christel
Published in
Genetics in medicine
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