Suchergebnisse - "Humans"

PubPharm (1.711)

1

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35

enthalten in: The Journal of biological chemistry | 2024

von Aguila, A. | Salah, S. | Kulasekaran, G. | +6

2

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

enthalten in: BMC pediatrics | 2024

von Sippelli, F. | Briuglia, S. | Ferraloro, C. | +7

3

Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy

enthalten in: Biochimica et biophysica acta. Molecular cell research | 2024

von Armanious, G. | Lemieux, M. | Espinoza-Fonseca, L. | +1

4

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

enthalten in: Annals of clinical and translational neurology | 2024

von Dohrn, M. | Bademci, G. | Rebelo, A. | +110

5

Genetic underpinnings explored : OPA1 deletion and complex phenotypes on chromosome 3q29

enthalten in: BMC medical genomics | 2024

von Wang, E. | Lin, P. | Wu, P. | +6

6

Spontaneous pneumomediastinum : An extra muscular manifestation of anti-MDA5 dermatomyositis. Report of 2 cases

enthalten in: Reumatologia clinica | 2024

von Arango Guerra, P. | Monsalve Yepes, S. | Chavarriaga Restrepo, A. | +1

7

Distal renal tubular acidosis as presenting manifestation of Wilson disease in a 11-year-old girl

enthalten in: CEN case reports | 2024

von Saiteja, P. | Krishnamurthy, S. | Deepthi, B. | +2

8

Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant

enthalten in: Internal medicine (Tokyo, Japan) | 2024

von Okumura, G. | Nakamura, K. | Seyama, R. | +10

9

Multiple venous thrombosis caused by F9 gene duplication and treated with catheter-directed thrombolysis, AngioJet-assisted pharmaco-mechanical thromboectomy and manual aspiration thromboectomy

enthalten in: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 2024

von Xiong, Q. | Li, Y. | Chen, F. | +2

10

An aggressive case of a thoracic undifferentiated SMARCA4-deficient tumor with extensive pleural involvement

enthalten in: Thoracic cancer | 2024

von Hanona, P. | Ezekwudo, D. | Fullmer, J. | +2

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