E-LIB Suche - Ergebnisse für: Innis, Jeffrey

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

eP249: Practical implementation of inpatient rapid comprehe..:

Sloan-Heggen, Christina ; Pritchard, Amanda Barone ; Barks, John...
Genetics in Medicine. 24 (2022) 3 - p. S158 , 2022

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

3

eP217: Ophthalmology genetics clinic in the times of COVID-..:

Pritchard, Amanda ; Beil, Adelyn ; Innis, Jeffrey.
Genetics in Medicine. 24 (2022) 3 - p. S135 , 2022

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

4

eP290: A mosaic Angelman syndrome case with language apraxi..:

Yang, Chen ; Sloan-Heggen, Christina ; Ducharme, Nicole...
Genetics in Medicine. 24 (2022) 3 - p. S183-S184 , 2022

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

5

Untangling the Heterogeneity of Acquired Generalized Lipody..:

Cavdar, Umit ; Akinci, Baris ; Foss de Freitas, Maria Cristina...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A39-A40 , 2021

Link: https://doi.org/10.1210/..

6

A Double-Blind, Randomized, Placebo-Controlled Clinical Stu..:

Berry-Kravis, Elizabeth ; Horrigan, Joseph P. ; Tartaglia, Nicole...
Pediatric Neurology. 110 (2020) - p. 30-41 , 2020

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

7

Integrative clinical genomics of metastatic cancer:

Robinson, Dan R. ; Wu, Yi-Mi ; Lonigro, Robert J....
Nature. 548 (2017) 7667 - p. 297-303 , 2017

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

8

De novo missense variants in PPP2R5D are associated with in..:

Shang, Linshan ; Henderson, Lindsay B. ; Cho, Megan T....
neurogenetics. 17 (2015) 1 - p. 43-49 , 2015

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

9

Design and Outcomes of a Novel Multidisciplinary Ophthalmic..:

Parekh, Bela ; Beil, Adelyn ; Blevins, Bridget...
Genes. 14 (2023) 3 - p. 726 , 2023

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

10

A Novel 13q12 Microdeletion Associated with Familial Syndro..:

Serpen, Jasmine Y. ; Presley, William ; Beil, Adelyn...
Genes. 14 (2023) 5 - p. 1034 , 2023

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

11

Novel multilocus imprinting disturbances in a child with ex..:

Tayeh, Marwan K. ; DeVaul, Janean ; LeSueur, Kristin...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2209-2216 , 2022

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

12

Cardiac phenotype in familial partial lipodystrophy:

Eldin, Abdelwahab Jalal ; Akinci, Baris ; da Rocha, Andre Monteiro...
Clinical Endocrinology. 94 (2021) 6 - p. 1043-1053 , 2021

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

13

Transcriptome analysis of MBD5-associated neurodevelopmenta..:

Mullegama, Sureni V. ; Klein, Steven D. ; Williams, Stephen R....
Scientific Reports. 11 (2021) 1 - p. , 2021

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

14

AHDC1 missense mutations in Xia-Gibbs syndrome:

Khayat, Michael M. ; Hu, Jianhong ; Jiang, Yunyun...
Human Genetics and Genomics Advances. 2 (2021) 4 - p. 100049 , 2021

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

15

Phenotypic spectrum and transcriptomic profile associated w..:

Castilla-Vallmanya, Laura ; Selmer, Kaja K. ; Dimartino, Clémantine...
Genetics in Medicine. 22 (2020) 7 - p. 1215-1226 , 2020

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