Suchergebnisse - "Brightman, Diana S"

PubPharm (11)

1

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature : A series of 20 unreported individuals

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Sabbagh, Q. | Haghshenas, S. | Piard, J. | +63

2

Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3

enthalten in: BMC pediatrics | 2024

von Nagaraj, C. | Brightman, D. | Rea, H. | +4

3

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

enthalten in: Frontiers in genetics | 2023

von Qu'd, D. | Schmitt, L. | Leston, A. | +5

4

Dual phenotype : co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report

enthalten in: Ophthalmic genetics | 2023

von Miraldi Utz, V. | Ebert, J. | Brightman, D. | +3

5

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center

enthalten in: Frontiers in genetics | 2022

von Baker, E. | Ulm, E. | Belonis, A. | +7

6

Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations

enthalten in: American journal of medical genetics. Part C, Seminars in medical genetics | 2020

von Miraldi Utz, V. | Brightman, D. | Sandoval, M. | +2

7

Systemic and ocular manifestations of a patient with mosaic ARID1A‐ a ssociated Coffin‐Siris syndrome and review of select mosaic conditions with ophthalmic manifestations

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2020

von Miraldi Utz, V. | Brightman, D. | Sandoval, M. | +2

8

MLL1 is essential for retinal neurogenesis and horizontal inner neuron integrity

enthalten in: Scientific reports | 2018

von Brightman, D. | Grant, R. | Ruzycki, P. | +3

9

Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing

enthalten in: Clinical case reports | 2018

von Brightman, D. | Ejaz, S. | Dauber, A.

10

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

enthalten in: Hormone research in paediatrics | 2018

von Brightman, D. | Lokulo-Sodipe, O. | Searle, B. | +4