Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Sarah S, Milla"'
Autor:
Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M. Robert, Sunday S. Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam J. Kundishora, Le T. Hao, Hong Li, Roger E. Stevenson, Raymond J. Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F. Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A. Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M. Wentzensen, Eileen E. Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G. Seaby, Kristin G. Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K. Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M. Pereira, Sara M. Berger, Sarah S. Milla, Ankita B. Jaykumar, Melanie H. Cobb, Shreyas Panchagnula, Phan Q. Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill. A. Rosenfeld, Michael J. Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E. Antonarakis, Charles E. Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T. Kahle, Bertrand Isidor
Publikováno v:
Genetics in Medicine, 24(9), 1941-1951. Lippincott Williams & Wilkins
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩
PURPOSE: WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown. METHOD: We ascertained exome or genome seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711e752a43d1442b0a91b2645fc1747e
https://doi.org/10.1016/j.gim.2022.05.009
https://doi.org/10.1016/j.gim.2022.05.009
Publikováno v:
Neuropediatrics
Background The rate of anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) in ovarian teratomas is unknown. We aim to identify the prevalence of NMDARE as well as volumetric and histopathologic characteristics of ovarian teratomas in patients wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0513ea3fc66bbf24cbad8a02bbd1114e
https://pubmed.ncbi.nlm.nih.gov/34872133
https://pubmed.ncbi.nlm.nih.gov/34872133
Autor:
Kameryn M. Butler, Philip J. Holt, Sarah S. Milla, Cristina da Silva, John J. Alexander, Andrew Escayg
Publikováno v:
Case Reports in Genetics, Vol 2018 (2018)
CACNA2D2 encodes an auxiliary subunit of the voltage-dependent calcium channel. To date, there have only been two reports of individuals with early-infantile epileptic encephalopathy due to CACNA2D2 mutations. In both reports, patients were homozygou
Externí odkaz:
https://doaj.org/article/9a062dfc96f2460a9b5de96e2ffecbd6
Autor:
Cory M. Pfeifer, Peter J. Strouse, Sabah Servaes, Cindy W. Christian, Sarah S. Milla, Marguerite M. Caré, M. Katherine Henry
Publikováno v:
American Journal of Roentgenology. 217:529-540
Child abuse is a global public health concern. Injuries from physical abuse may be clinically occult and not appreciable on physical examination. Imaging is therefore critical in identifying and do...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb4091ab68ba16585a606166e227af36
https://doi.org/10.2214/ajr.21.25655
https://doi.org/10.2214/ajr.21.25655
Autor:
Rupa Radhakrishnan, Sumit Pruthi, Sarah S Milla, Anna Trofimova, Orit A. Glenn, Jeffrey P. Blount, Unni K. Udayasankar, Matthew T Whitehead, Nadja Kadom, Boaz Karmazyn, Bruno P. Soares, Emily Rose, David M. Mirsky, Nilesh K. Desai, John S. Myseros, Andrew T. Trout, Maura E. Ryan, Monica P. Islam, Sonia Partap
Publikováno v:
Journal of the American College of Radiology. 18:S199-S211
In children, seizures represent an extremely heterogeneous group of medical conditions ranging from benign cases, such as a simple febrile seizure, to life-threatening situations, such as status epilepticus. Underlying causes of seizures also represe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fea004d106f242b8b13ac88a862526d
https://doi.org/10.1016/j.jacr.2021.02.020
https://doi.org/10.1016/j.jacr.2021.02.020
Autor:
Edward J Richer, Jay Shah, Sarah S Milla, Adina Alazraki, Erica L. Riedesel, Leann E Linam, Christina A. Rostad, Bradley S. Rostad, Preeti Jaggi
Publikováno v:
Pediatric Radiology
Background Although the radiographic features of coronavirus disease 2019 (COVID-19) in children have been described, the distinguishing features of multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19 are not well character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7124a63ab6ae619bdd00e3f80945c7ec
https://doi.org/10.1007/s00247-020-04921-9
https://doi.org/10.1007/s00247-020-04921-9
Publikováno v:
Pediatric Radiology. 51:782-791
Artificial intelligence models have been successful in analyzing ordinary photographic images. One type of artificial intelligence model is object detection, where a labeled bounding box is drawn around an area of interest. Object detection can be ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bcc16c3b46bbba687a5b6c8859a693d1
https://doi.org/10.1007/s00247-020-04895-8
https://doi.org/10.1007/s00247-020-04895-8
Autor:
Sarah S Milla, James Bost, Allison C. Mayhew, Krista J. Childress, Leann E Linam, Mina Farahzad
Publikováno v:
J Pediatr Adolesc Gynecol
Study Objective Limited data exist on the morphologic and physiologic effect on the remaining ovary after unilateral oophorectomy, especially in the pediatric population. Our aim is to evaluate ovarian volumes following unilateral oophorectomy to det
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83cd0c2686e07ded7e9b83d3b71d2e5d
https://doi.org/10.1016/j.jpag.2020.07.001
https://doi.org/10.1016/j.jpag.2020.07.001
Autor:
Maura E. Ryan, Sumit Pruthi, Nilesh K. Desai, Richard A. Falcone, Orit A. Glenn, Madeline M. Joseph, Mohit Maheshwari, Jennifer R. Marin, Catherine Mazzola, Sarah S. Milla, David M. Mirsky, John S. Myseros, Sumit N. Niogi, Sonia Partap, Rupa Radhakrishnan, Richard L. Robertson, Bruno P. Soares, Unni K. Udayasankar, Matthew T. Whitehead, Jason N. Wright, Boaz Karmazyn
Publikováno v:
Journal of the American College of Radiology. 17:S125-S137
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e939743f798e7c5bd4e21d4e1352cce
https://doi.org/10.1016/j.jacr.2020.01.026
https://doi.org/10.1016/j.jacr.2020.01.026
Autor:
Sumit Pruthi, Matthew T Whitehead, H F Samuel Lam, Michael J. Rivkin, David M. Mirsky, John S. Myseros, Sarah S Milla, Bruno P. Soares, Susan Palasis, Twyla B Bartel, Richard L. Robertson, Abhaya V. Kulkarni, Rupa Radhakrishnan, Nadja Kadom, Unni K. Udayasankar, Nilesh K. Desai, Mohit Maheshwari, Sonia Partap, Boaz Karmazyn, Andrew T. Trout
Publikováno v:
Journal of the American College of Radiology. 17:S36-S54
Stroke is an uncommon but an important and under-recognized cause of morbidity and mortality in children. Strokes may be due to either brain ischemia or intracranial hemorrhage. Common symptoms of pediatric acute stroke include headache, vomiting, fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe18833106dfd6893de37952683f0149
https://doi.org/10.1016/j.jacr.2020.01.036
https://doi.org/10.1016/j.jacr.2020.01.036