E-LIB Suche - Ergebnisse für: ARSLAN, NUR

1

Experience with cascade screening: A comprehensive family p..:

Kisa, Pelin Teke ; Hismi, Burcu Ozturk ; Kocabey, Mehmet...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

Link: https://doi.org/10.1002/..

2

From Rarity to Recognition: Infantile Botulism and the Broa..:

Authement, Matthew C. ; Jones, Brandon M. ; Kahoud, Robert J...
Case Reports in Pediatrics. 2024 (2024) - p. 1-3 , 2024

Link: https://doi.org/10.1155/..

3

A Girl with PRRT2 Mutation Presenting with Benign Familial ..:

Zhang, Li ; Wan, Zhen-Xia ; Zhu, Jin-Yi...
Case Reports in Pediatrics. 2024 (2024) - p. 1-5 , 2024

Link: https://doi.org/10.1155/..

4

Clinical, biochemical, and molecular insights into Cerebrot..:

Zubarioglu, Tanyel ; Kıykım, Ertuğrul ; Köse, Engin...
Molecular Genetics and Metabolism. 142 (2024) 2 - p. 108493 , 2024

Link: https://doi.org/10.1016/..

5

Brain Abscess due to Streptococcus intermedius after Sponta..:

Camacho-Gomez, Sandra Mabel ; Monagas, Javier ; Noel, Robert Adam..
Case Reports in Pediatrics. 2024 (2024) - p. 1-5 , 2024

Link: https://doi.org/10.1155/..

6

Genetic Diversity and Population Structure Analysis of Anat..:

Arslan, Nur ; Yılmaz Baydu, Funda ; Hazrati, Nahid...
Horticulturae. 9 (2023) 7 - p. 743 , 2023

Link: https://doi.org/10.3390/..

7

Taliglucerase-alfa experience with 34 Gaucher disease patie..:

Mungan, Neslihan Onenli ; Coker, Mahmut ; Yildirim, Gonca Kilic...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107252 , 2023

Link: https://doi.org/10.1016/..

8

Striatal Lacunar Infarction in a Late Preterm Infant Born t..:

Hochmayr, Christoph ; Hammerl, Marlene ; Winkler, Ira...
Case Reports in Pediatrics. 2023 (2023) - p. 1-6 , 2023

Link: https://doi.org/10.1155/..

9

A Giant Parathyroid Adenoma Presenting as Nausea, Vomiting,..:

Muse, Jessica ; Palmer, Rebecca ; Auriemma, Jeanna.
Case Reports in Pediatrics. 2023 (2023) - p. 1-4 , 2023

Link: https://doi.org/10.1155/..

10

A Challenging Case of Oral Ulcers and Gastrointestinal Blee..:

Dantas, Marina A. S. ; Graneiro, Ana Luiza ; Cavalcante, Rodrigo..
Case Reports in Pediatrics. 2023 (2023) - p. 1-6 , 2023

Link: https://doi.org/10.1155/..

11

Growth Hormone Therapy for Small for Gestational Age Short ..:

Nomura, Naohiro ; Tanabe, Yuko ; Minami, Miki...
Case Reports in Pediatrics. 2023 (2023) - p. 1-4 , 2023

Link: https://doi.org/10.1155/..

12

Expert opinion on patient journey, diagnosis and clinical m..:

Arslan, Nur ; Coker, Mahmut ; Gokcay, Gulden Fatma...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

13

Three-Country Snapshot of Ornithine Transcarbamylase Defici..:

Seker Yilmaz, Berna ; Baruteau, Julien ; Arslan, Nur...
Life. 12 (2022) 11 - p. 1721 , 2022

Link: https://doi.org/10.3390/..

14

Subcutaneous nodules as a clinical biomarker of Farber dise..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S84 , 2022

Link: https://doi.org/10.1016/..

15

Central Nervous System Xanthoma Disseminatum: Response to 2..:

DeMoss, Patrick ; Tang, Nancy ; Yeom, Kristen...
Case Reports in Pediatrics. 2022 (2022) - p. 1-6 , 2022

Link: https://doi.org/10.1155/..