E-LIB Suche - Ergebnisse für: Engle, Elizabeth C.

1

The influence of orbital architecture on strabismus in cran..:

Lee, Tonya C. ; Walker, Evan ; Ting, Michelle A....
Journal of American Association for Pediatric Ophthalmology and Strabismus. 28 (2024) 1 - p. 103812 , 2024

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

2

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
Genetics in Medicine. 26 (2024) 6 - p. 101119 , 2024

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

3

Oral Health-Related Quality of Life in Rare Disorders of Co..:

Liberton, Denise K. ; Almpani, Konstantinia ; Mishra, Rashmi...
International Journal of Environmental Research and Public Health. 21 (2024) 5 - p. 615 , 2024

Link: https://doi.org/10.3390/..

4

Inability to move one's face dampens facial expression perc..:

Japee, Shruti ; Jordan, Jessica ; Licht, Judith...
Cortex. 169 (2023) - p. 35-49 , 2023

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

5

TUBB3 and KIF21A in neurodevelopment and disease:

Puri, Dharmendra ; Barry, Brenda J. ; Engle, Elizabeth C.
Frontiers in Neuroscience. 17 (2023) - p. , 2023

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

6

Congenital Fibrosis of the Extraocular Muscles (CFEOM): A B..:

, In: Fundamentals of Pediatric Neuro-Ophthalmology,

Whitman, Mary C. ; Engle, Elizabeth C. - p. 123-126 , 2023

Link: https://doi.org/10.1007/..

7

Recessive variants inCOL25A1gene as novel cause of arthrogr..:

Natera‐de Benito, Daniel ; Jurgens, Julie A. ; Yeung, Alison...
Human Mutation. 43 (2022) 4 - p. 487-498 , 2022

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

8

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022

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

9

TWIST1, a gene associated with Saethre-Chotzen syndrome, re..:

Whitman, Mary C. ; Gilette, Nicole M. ; Bell, Jessica L....
Developmental Biology. 490 (2022) - p. 126-133 , 2022

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

10

A framework for the evaluation of patients with congenital ..:

Webb, Bryn D. ; Manoli, Irini ; Engle, Elizabeth C..
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

11

Novel variants in TUBA1A cause congenital fibrosis of the e..:

Jurgens, Julie A. ; Barry, Brenda J. ; Lemire, Gabrielle...
European Journal of Human Genetics. 29 (2021) 5 - p. 816-826 , 2021

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

12

Optic Nerve Head and Retinal Abnormalities Associated with ..:

Thomas, Mervyn G. ; Maconachie, Gail D. E. ; Kuht, Helen J....
International Journal of Molecular Sciences. 22 (2021) 5 - p. 2575 , 2021

Link: https://doi.org/10.3390/..

13

Differentiating Moebius syndrome and other congenital facia..:

Lehky, Tanya ; Joseph, Reversa ; Toro, Camilo...
Muscle & Nerve. 63 (2021) 4 - p. 516-524 , 2021

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

14

Nuclear IMPDH Filaments in Human Gliomas:

Ahangari, Narges ; Munoz, David G ; Coulombe, Josee...
Journal of Neuropathology & Experimental Neurology. 80 (2021) 10 - p. 944-954 , 2021

Link: https://doi.org/10.1093/..

15

Brain phenotyping in Moebius syndrome and other congenital ..:

Sadeghi, Neda ; Hutchinson, Elizabeth ; Van Ryzin, Carol...
Brain Communications. 2 (2020) 1 - p. , 2020

Link: https://doi.org/10.1093/..