E-LIB Suche - Ergebnisse für: Battaglia, Agatino

1

Personal journeys to and in human genetics and dysmorpholog:

Schwartz, Charles E. ; Aylsworth, Arthur S. ; Allanson, Judith...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

2

Seizures in trisomy 18: Prevalence, description, and treatm..:

Jaspersen, Sue L. ; Bruns, Deborah A. ; Candee, Meghan S....
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 1026-1037 , 2023

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

3

P139: Seizures in trisomy 18: Prevalence, description, and ..:

Carey, John ; Jaspersen, Sue ; Candee, Meghan...
Genetics in Medicine Open. 1 (2023) 1 - p. 100168 , 2023

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

4

Dissecting the multifaceted contribution of the mitochondri..:

Caporali, Leonardo ; Fiorini, Claudio ; Palombo, Flavia...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

5

Further characterization of NFIB‐associated phenotypes: Rep..:

Marinella, Gemma ; Conti, Eugenia ; Buchignani, Bianca...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 540-545 , 2022

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

6

The delineation of the Wolf‐Hirschhorn syndrome over six de..:

Battaglia, Agatino ; Carey, John C.
American Journal of Medical Genetics Part A. 185 (2021) 9 - p. 2748-2755 , 2021

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

7

Reflections on observing faces in art:

Battaglia, Agatino ; Carey, John C.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187 (2021) 2 - p. 144-147 , 2021

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

8

Natural history study of adults with Wolf–Hirschhorn syndro..:

Carey, John C. ; Lortz, Amanda ; Mendel, Alyssa.
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2065-2069 , 2021

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

9

Cassidy and Allanson's management of genetic syndromes:

Carey, John C ; Battaglia, Agatino ; Viskochil, David. - Fourth edition . , 2021

Link: https://onlinelibrary.wi..

10

Natural history study of adults with Wolf–Hirschhorn syndro..:

Battaglia, Agatino ; Lortz, Amanda ; Carey, John C.
American Journal of Medical Genetics Part A. 185 (2021) 6 - p. 1794-1802 , 2021

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

11

An integrated analysis of rare CNV and exome variation in A..:

Bacchelli, Elena ; Cameli, Cinzia ; Viggiano, Marta...
Scientific Reports. 10 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

12

International meeting on Wolf‐Hirschhorn syndrome: Update o..:

Nevado, Julián ; Ho, Karen S. ; Zollino, Marcella...
American Journal of Medical Genetics Part A. 182 (2019) 1 - p. 257-267 , 2019

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

13

Delineation of MidXq28‐duplication syndrome distal to MECP2..:

Sinibaldi, Lorenzo ; Parisi, Valentina ; Lanciotti, Silvia...
Clinical Genetics. 96 (2019) 3 - p. 246-253 , 2019

Link: https://doi.org/10.1111/..

14

Perinatal distress in 1p36 deletion syndrome can mimic hypo..:

Carter, Lauren B. ; Battaglia, Agatino ; Cherry, Athena...
American Journal of Medical Genetics Part A. 179 (2019) 8 - p. 1543-1546 , 2019

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

15

A survey of antiepileptic drug responses identifies drugs w..:

Ho, Karen S. ; Markham, Leah M. ; Twede, Hope...
Epilepsy & Behavior. 81 (2018) - p. 55-61 , 2018

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