Suchergebnisse - "Humans"

PubPharm (69.480)

91

Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease : A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype

enthalten in: American journal of kidney diseases : the official journal of the National Kidney Foundation | 2024

von Salhi, S. | Doreille, A. | Dancer, M. | +7

92

A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte

enthalten in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024

von Jin, S. | Sun, Z. | Fang, X. | +4

93

c.202_204del in NUP214 causes late onset form of febrile encephalopathy

enthalten in: American journal of medical genetics. Part A | 2024

von Farooqui, S. | Narayanan, D. | Mascarenhas, S. | +4

94

Rapid diurnal variation of serous retinal detachment during BRAF and MEK inhibitor treatment : A case series

enthalten in: Acta ophthalmologica | 2024

von Bravetti, G. | Muggler, K. | Ben Aissa, A. | +2

95

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome

enthalten in: Molecular genetics and genomics : MGG | 2024

von Billon, C. | Piccoli, G. | de Sainte Agathe, J. | +7

96

Incidental Detection of TFEB-Amplified Renal Cell Carcinoma by Colocated Gene Amplification of CCND3 (6p21) : A Case Report and Review of the Literature

enthalten in: International journal of surgical pathology | 2024

von Repetto, F. | Sirohi, D. | Greipp, P. | +1

97

Serious Bacterial Infections Associated with Eculizumab : A Pharmacovigilance Study

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

von Okusa, S. | Takizawa, T. | Imai, S. | +5

98

Intrahepatic Cholangiocarcinoma with High Microsatellite Instability and Tumor Mutation Burden That Responded Significantly to Pembrolizumab but Perforated within a Short Period

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

von Yamazaki, S. | Kubota, K. | Shimizu, A. | +9

99

Double somatic mosaicism in Cornelia de Lange syndrome

enthalten in: American journal of medical genetics. Part A | 2024

von Pezzani, L. | Pezzoli, L. | Rosina, E. | +9

100

Zimberelimab combined with systemic therapy extended tumor control in post-radiotherapy cervical cancer with brain metastases : A case report

enthalten in: The journal of obstetrics and gynaecology research | 2024

von Ni, B. | Pan, M. | He, L. | +1