Suchergebnisse - "Klee, Eric W"

PubPharm (383)

101

Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome : A case report and literature review

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2021

von Morales‐Rosado, J. | Singh, H. | Olson, R. | +4

102

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss : A novel cohort study

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2021

von Bowles, B. | Ferrer, A. | Nishimura, C. | +28

103

CSNK2B : A broad spectrum of neurodevelopmental disability and epilepsy severity

enthalten in: Epilepsia | 2021

von Ernst, M. | Baugh, E. | Thomas, A. | +54

104

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

enthalten in: Molecular Genetics & Genomic Medicine | 2021

von Muthusamy, K. | Ferrer, A. | Klee, E. | +2

105

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

enthalten in: Acta neuropathologica | 2020

von García-Cazorla, �. | Verdura, E. | Juliá-Palacios, N. | +35

106

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

enthalten in: Blood cancer journal | 2020

von Ferrer, A. | Mangaonkar, A. | Stroik, S. | +12

107

Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa

enthalten in: Thrombosis research | 2020

von Pinto E Vairo, F. | Kroc, S. | Bertsch, N. | +7

108

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder : case report

enthalten in: BMC medical genetics | 2020

von Schultz-Rogers, L. | Muthusamy, K. | Pinto E Vairo, F. | +2

109

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

enthalten in: BMC medical genetics | 2020

von Schultz-Rogers, L. | Muthusamy, K. | Pinto e Vairo, F. | +2

110

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

enthalten in: BMC medical genetics | 2020

von Schultz-Rogers, L. | Muthusamy, K. | Pinto e Vairo, F. | +2