E-LIB Suche - Ergebnisse für: Mazzola, Sarah E.

1

Primary care physicians' understanding and utilization of p..:

Mazzola, Sarah E. ; O'Connor, Bridget ; Yashar, Beverly M.
Journal of Genetic Counseling. 28 (2019) 6 - p. 1130-1138 , 2019

Link: https://doi.org/10.1002/..

2

Phenotype delineation of ZNF462 related syndrome:

Kruszka, Paul ; Hu, Tommy ; Hong, Sungkook...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2075-2082 , 2019

Link: https://doi.org/10.1002/..

3

Structural determination of four manufacturing impurities o..:

Mazzola, Eugene P. ; Weisz, Adrian ; Ridge, Douglas P....
Magnetic Resonance in Chemistry. 59 (2021) 11 - p. 1107-1115 , 2021

Link: https://doi.org/10.1002/..

4

ACR Appropriateness Criteria® Head Trauma-Child:

Ryan, Maura E. ; Pruthi, Sumit ; Desai, Nilesh K....
Journal of the American College of Radiology. 17 (2020) 5 - p. S125-S137 , 2020

Link: https://doi.org/10.1016/..

5

Natural History Study of STXBP1-Developmental and Epileptic..:

Stamberger, Hannah ; Crosiers, David ; Furia, Francesca...
info:eu-repo/semantics/altIdentifier/issn/1526-632X. , 2022

Link: https://publications.rwt..

6

Natural History Study of STXBP1-Developmental and Epileptic..:

Stamberger, Hannah ; Crosiers, David ; Balagura, Ganna...
https://pure.au.dk/portal/da/publications/natural-history-study-of-stxbp1developmental-and-epileptic-encephalopathy-into-adulthood(f755fb6d-89c0-49d8-aec7-f9ae8754c0a4).html. , 2022

Link: https://pure.au.dk/porta..

7

Natural History Study of STXBP1-Developmental and Epileptic..:

Stamberger, Hannah ; Crosiers, David ; Balagura, Ganna...
Stamberger , H , Crosiers , D , Balagura , G , Bonardi , C M , Basu , A , Cantalupo , G , Chiesa , V , Christensen , J , Dalla Bernardina , B , Ellis , C A , Furia , F , Gardiner , F , Giron , C , Guerrini , R , Klein , K M , Korff , C , Krijtova , H , Leffner , M , Lerche , H , Lesca , G , Lewis-Smith , D , Marini , C , Marjanovic , D , Mazzola , L , McKeown Ruggiero , S , Mochel , F , Ramond , F , Reif , P S , Richard-Mornas , A , Rosenow , F , Schropp , C , Thomas , R H , Vignoli , A , Weber , Y , Palmer , E , Helbig , I , Scheffer , I E , Striano , P , Møller , R S , Gardella , E & Weckhuysen , S 2022 , ' Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood ' , Neurology , vol. 99 , no. 3 , pp. E221-E233 . https://doi.org/10.1212/WNL.0000000000200715. , 2022

Link: https://portal.findresea..

8

Natural History Study of STXBP1-Developmental and Epileptic..:

Stamberger, Hannah ; Crosiers, David ; Balagura, Ganna...
info:eu-repo/semantics/altIdentifier/pmid/35851549. , 2022

Link: https://hdl.handle.net/2..

9

Kleine Levin syndrome of the Pampas: review of diagnosed ca..:

Valiensi, S. ; Garay, A. ; Martinez, O....
Sleep Medicine. 40 (2017) - p. e332 , 2017

Link: https://doi.org/10.1016/..

10

2-17-16 Coexistence of two forms of benign childhood partia..:

Ferraro, S.M. ; Daraio, M.C. ; Mazzola, M.E....
Journal of the Neurological Sciences. 150 (1997) - p. S98-S99 , 1997

Link: https://doi.org/10.1016/..

11

Symptomatic polymorphism of electrical status epilepticus d..:

Ferraro, Stella M. ; Moreno, Raúl ; Podestá, Claudio...
Pediatric Neurology. 8 (1992) 5 - p. 356-357 , 1992

Link: https://doi.org/10.1016/..

12

P197: Reclassification of variants following renal genetics..:

Lim, Euyn ; Borden, Chloe ; Mehta, Seysha...
Genetics in Medicine Open. 2 (2024) - p. 101094 , 2024

Link: https://doi.org/10.1016/..

13

P235: Polycystic kidney disease and hepatic fibrosis: Pheno..:

Mehta, Seysha ; Yadav, Aditi ; Mazzola, Sarah..
Genetics in Medicine Open. 2 (2024) - p. 101131 , 2024

Link: https://doi.org/10.1016/..

14

Reclassification of Variants Following Renal Genetics Testi..:

Lim, Euyn ; Borden, Chloe ; Mehta, Seysha...
Kidney International Reports. 9 (2024) 5 - p. 1441-1450 , 2024

Link: https://doi.org/10.1016/..

15

P366: Kidney cysts: Potential underrecognized phenotype of ..:

Wakim, Victor ; Mazzola, Sarah ; Dell, Katherine.
Genetics in Medicine Open. 2 (2024) - p. 101260 , 2024

Link: https://doi.org/10.1016/..