Suchergebnisse - "Haliloglu, Goknur"

PubPharm (36)

1

Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia

enthalten in: Journal of proteome research | 2023

von Cengiz Winter, N. | Karakaya, M. | Mosen, P. | +5

2

A Child with Refractory and Relapsing Anti-3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Myopathy : Case-Based Review

enthalten in: Journal of neuromuscular diseases | 2023

von Sener, S. | Batu, E. | Sari, S. | +6

3

Two tales of LPIN1 deficiency : from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome

enthalten in: Neuromuscular disorders : NMD | 2022

von Kahraman, A. | Karakaya, B. | Yıldız, Y. | +6

4

New-Onset Ocular Myasthenia after Multisystem Inflammatory Syndrome in Children

enthalten in: The Journal of pediatrics | 2022

von Yavuz, P. | Demir, O. | Ozsurekci, Y. | +3

5

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis : A rare disorder with neurologic regression and skeletal features

enthalten in: American journal of medical genetics. Part A | 2021

von Kındış, E. | Simsek-Kiper, P. | Koşukcu, C. | +6

6

Natural history of TRPV4-Related disorders : From skeletal dysplasia to neuromuscular phenotype

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2021

von Ürel-Demir, G. | Şimşek-Kiper, P. | Öncel, �. | +3

7

The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome : a case report

enthalten in: The Turkish journal of pediatrics | 2021

von Yardımcı-Lokmanoğlu, B. | Mutlu, A. | Livanelioğlu, A. | +1

8

A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion

enthalten in: Neuropediatrics | 2020

von Simsek-Kiper, P. | Oguz, S. | Ergen, F. | +3

9

Novel insights into diabetes mellitus due to DNAJC3-defect : Evolution of neurological and endocrine phenotype in the pediatric age group

enthalten in: Pediatric diabetes | 2020

von Ozon, Z. | Alikasifoglu, A. | Kandemir, N. | +12

10

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

enthalten in: Pediatrics | 2020

von Yıldız, Y. | Göçmen, R. | Yaramış, A. | +2