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Balkan Journal of Medical Genetics

Tom 26 (2023): Zeszyt 2 (Grudzień 2023)

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12 Artykułów

Original Article

Otwarty dostęp | 12 mar 2024
Preimplantation Genetic Testing within the Public Healthcare System in Slovenia
M Volk

M Volk

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Volk, M
, 
K Writzl

K Writzl

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Writzl, K
, 
A Veble

A Veble

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Veble, A
, 
H Jaklič

H Jaklič

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Jaklič, H
, 
N Teran

N Teran

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Teran, N
, 
B Prosenc

B Prosenc

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Prosenc, B
, 
M Štimpfel

M Štimpfel

Department of Human Reproduction, Division of Gynaecology and Obstetrics, University Medical Centre LjubljanaLjubljana, Slovenia
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Štimpfel, M
, 
I Virant Klun

I Virant Klun

Clinical Research Centre, University Medical Centre LjubljanaLjubljana, Slovenia
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Virant Klun, I
, 
E Vrtačnik Bokal

E Vrtačnik Bokal

Department of Human Reproduction, Division of Gynaecology and Obstetrics, University Medical Centre LjubljanaLjubljana, Slovenia
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Vrtačnik Bokal, E
, 
H Ban Frangež

H Ban Frangež

Department of Human Reproduction, Division of Gynaecology and Obstetrics, University Medical Centre LjubljanaLjubljana, Slovenia
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Ban Frangež, H
 oraz 
B Peterlin

B Peterlin

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Peterlin, B
  
Otwarty dostęp | 12 mar 2024
Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples
Gj Bozhinovski

Gj Bozhinovski

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Science and ArtsSkopje, North Macedonia
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Bozhinovski, Gj
, 
M Terzikj

M Terzikj

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Science and ArtsSkopje, North Macedonia
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Terzikj, M
, 
K Kubelka-Sabit

K Kubelka-Sabit

  • Clinical Hospital “Acibadem Sistina”Skopje, North Macedonia
  • Faculty of Medical Sciences, University “Goce Delchev”Stip, North Macedonia
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Kubelka-Sabit, K
, 
Dz Jasar

Dz Jasar

  • Clinical Hospital “Acibadem Sistina”Skopje, North Macedonia
  • Faculty of Medical Sciences, University “Goce Delchev”Stip, North Macedonia
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Jasar, Dz
, 
S Lazarevski

S Lazarevski

Clinical Hospital “Acibadem Sistina”Skopje, North Macedonia
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Lazarevski, S
, 
V Livrinova

V Livrinova

University Clinic for Obstetrics and Gynaecology, Faculty of Medicine, Ss. Cyril and Methodius UniversitySkopje, North Macedonia
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Livrinova, V
 oraz 
D Plaseska-Karanfilska

D Plaseska-Karanfilska

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Science and ArtsSkopje, North Macedonia
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Plaseska-Karanfilska, D
  
Otwarty dostęp | 12 mar 2024
Droplet Digital PCR as a Molecular Tool for the Detection of the EGFR T790M Mutation in NSCLC Patients with the EGFR Activating Mutations
S Durgut

S Durgut

Alea Genetic Centre, Health Institute Alea Dr. KandićSarajevo, Bosnia and Herzegovina
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Durgut, S
, 
L Salihefendić

L Salihefendić

Alea Genetic Centre, Health Institute Alea Dr. KandićSarajevo, Bosnia and Herzegovina
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Salihefendić, L
, 
D Pećar

D Pećar

Alea Genetic Centre, Health Institute Alea Dr. KandićSarajevo, Bosnia and Herzegovina
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Pećar, D
, 
I Čeko

I Čeko

Alea Genetic Centre, Health Institute Alea Dr. KandićSarajevo, Bosnia and Herzegovina
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Čeko, I
, 
N Mulahuseinović

N Mulahuseinović

Alea Genetic Centre, Health Institute Alea Dr. KandićSarajevo, Bosnia and Herzegovina
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Mulahuseinović, N
, 
M Izmirlija

M Izmirlija

Faculty of Pharmacy, University of SarajevoSarajevo, Bosnia and Herzegovina
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Izmirlija, M
 oraz 
R Konjhodžić

R Konjhodžić

  • Alea Genetic Centre, Health Institute Alea Dr. KandićSarajevo, Bosnia and Herzegovina
  • Department of Laboratory Technology, Faculty of Health Studies, University of SarajevoSarajevo, Bosnia and Herzegovina
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Konjhodžić, R
  
Otwarty dostęp | 12 mar 2024
Association Between the Polymorphism of Angiotensin-Converting Enzyme Gene and Interleukin-1 Beta Gene and the Response to Erythropoietin Therapy in Dialysis Patients with Anemia
P Dzekova-Vidimliski

P Dzekova-Vidimliski

  • University Hospital of NephrologySkopje, Macedonia
  • Faculty of Medicine, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Dzekova-Vidimliski, P
, 
N Eftimovska-Otovikj

N Eftimovska-Otovikj

  • General City Hospital “8mi Septemvri”Skopje, Macedonia
  • Faculty of Medicine, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Eftimovska-Otovikj, N
, 
I G Nikolov

I G Nikolov

  • University Hospital of NephrologySkopje, Macedonia
  • Faculty of Medicine, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Nikolov, I G
, 
Gj Selim

Gj Selim

  • University Hospital of NephrologySkopje, Macedonia
  • Faculty of Medicine, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Selim, Gj
, 
I Rambabova-Bushljetik

I Rambabova-Bushljetik

  • University Hospital of NephrologySkopje, Macedonia
  • Faculty of Medicine, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Rambabova-Bushljetik, I
, 
V Pushevski

V Pushevski

  • University Hospital of NephrologySkopje, Macedonia
  • Faculty of Medicine, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Pushevski, V
, 
V Karanfilovski

V Karanfilovski

  • University Hospital of NephrologySkopje, Macedonia
  • Faculty of Medicine, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Karanfilovski, V
, 
N Matevska-Geshovska

N Matevska-Geshovska

Faculty of Pharmacy, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Matevska-Geshovska, N
 oraz 
A Dimovski

A Dimovski

Faculty of Pharmacy, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Dimovski, A
  
Otwarty dostęp | 12 mar 2024
Co-Existence of CYP2C19*1/*2 and ABCB1c.3435 CT Genotype has a Potential Impact on Clinical Outcome in CAD Patients Treated with Clopidogrel
KA Nestorovska

KA Nestorovska

Faculty of Pharmacy, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Nestorovska, KA
, 
Z Naumovska

Z Naumovska

Faculty of Pharmacy, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Naumovska, Z
, 
M Staninova Stojovska

M Staninova Stojovska

Faculty of Pharmacy, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Staninova Stojovska, M
, 
Z Sterjev

Z Sterjev

Faculty of Pharmacy, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Sterjev, Z
, 
A Dimovski

A Dimovski

Faculty of Pharmacy, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Dimovski, A
 oraz 
Lj Suturkova

Lj Suturkova

Faculty of Pharmacy, Ss. Cyril and Methodius University in SkopjeSkopje, Macedonia
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Suturkova, Lj
  
Otwarty dostęp | 12 mar 2024
Determination of the Relationship Between DNA Methylation Status of KLOTHO and ARNTL Genes With Hypertension
M Osum

M Osum

Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Near East UniversityNicosia, Turkey
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Osum, M
, 
O Tosun

O Tosun

Department of Biostatistics, Faculty of Medicine, Near East UniversityNicosia, Turkey
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Tosun, O
, 
H Birtan

H Birtan

Department of Cardiovascular Surgery, Dr Burhan Nalbantoglu State HospitalTurkey
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Birtan, H
 oraz 
R Kalkan

R Kalkan

Faculty of Medicine, European University of LefkeLefke, Turkey
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Kalkan, R
  
Otwarty dostęp | 12 mar 2024
Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?
N Hakan

N Hakan

Department of Neonatology, Muğla Sitki Kocman University School of MedicineMuğla, Türkiye
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Hakan, N
, 
M Aydin

M Aydin

Department of Neonatology, Fırat University School of MedicineElazığ, Türkiye
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Aydin, M
, 
S Ceylaner

S Ceylaner

INTERGEN Genetics and Rare Diseases Diagnosis Research & Application CenterAnkara, Türkiye
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Ceylaner, S
, 
D Dilli

D Dilli

Division of Neonatology, Dr. Sami Ulus Maternity and Children HospitalAnkara, Türkiye
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Dilli, D
, 
A Zenciroğlu

A Zenciroğlu

Division of Neonatology, Dr. Sami Ulus Maternity and Children HospitalAnkara, Türkiye
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Zenciroğlu, A
 oraz 
N Okumuş

N Okumuş

Division of Neonatology, Dr. Sami Ulus Maternity and Children HospitalAnkara, Türkiye
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Okumuş, N
  

Case Report

Otwarty dostęp | 12 mar 2024
Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21
A Paripović

A Paripović

  • Department of Nephrology, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”Belgrade, Serbia
  • University of Belgrade, Faculty of Medicine
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Paripović, A
, 
A Maver

A Maver

Clinical Institute of Genomic Medicine, University Medical Centre LjubljanaLjubljana, Slovenia
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Maver, A
, 
N Stajić

N Stajić

  • Department of Nephrology, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”Belgrade, Serbia
  • University of Belgrade, Faculty of Medicine
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Stajić, N
, 
J Putnik

J Putnik

  • Department of Nephrology, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”Belgrade, Serbia
  • University of Belgrade, Faculty of Medicine
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Putnik, J
, 
S Ostojić

S Ostojić

  • Department of Neurology, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”Belgrade, Serbia
  • University of Belgrade, Faculty of Medicine
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Ostojić, S
, 
B Alimpić

B Alimpić

Day Care Hospital, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”Belgrade, Serbia
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Alimpić, B
, 
N Ilić

N Ilić

Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”Belgrade, Serbia
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Ilić, N
 oraz 
A Sarajlija

A Sarajlija

  • Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia “Dr Vukan Čupić”Belgrade, Serbia
  • University of Belgrade, Faculty of Medicine
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Sarajlija, A
  
Otwarty dostęp | 12 mar 2024
EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay
M Sleptsova

M Sleptsova

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
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Sleptsova, M
, 
C Georgiev

C Georgiev

ULB Neuroscience Institute, Université libre de Bruxelles (ULB)Brussels, Belgium
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Georgiev, C
, 
S Atemin

S Atemin

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Atemin, S
, 
P Dimova

P Dimova

St. Ivan Rilski University HospitalSofia, Bulgaria
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Dimova, P
, 
D Avdjieva-Tzavella

D Avdjieva-Tzavella

Department of Clinical Genetics, University Pediatric HospitalSofia, Bulgaria
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Avdjieva-Tzavella, D
, 
G Tacheva

G Tacheva

  • Department of Pediatrics, Medical University of SofiaSofia, Bulgaria
  • Specialized Hospital for Active Treatment of Children’s Diseases “prof. Ivan Mitev”Sofia, Bulgaria
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Tacheva, G
, 
I Litvinenko

I Litvinenko

  • Department of Pediatrics, Medical University of SofiaSofia, Bulgaria
  • Specialized Hospital for Active Treatment of Children’s Diseases “prof. Ivan Mitev”Sofia, Bulgaria
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Litvinenko, I
, 
L Grozdanova

L Grozdanova

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Grozdanova, L
, 
T Todorov

T Todorov

Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
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Todorov, T
, 
V Mitev

V Mitev

Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
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Mitev, V
 oraz 
A Todorova

A Todorova

  • Genetic Medico-Diagnostic Laboratory “Genica”Sofia, Bulgaria
  • Department of Medical Chemistry and Biochemistry, Medical University SofiaSofia, Bulgaria
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Todorova, A
  
Otwarty dostęp | 12 mar 2024
Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report
A Lamzouri

A Lamzouri

  • Life and Health Sciences Laboratory, Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essaâdi UniversityMorocco
  • Department of Medical Genetics and Oncogenetics, Mohammed VI University HospitalTangier, Morocco
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Lamzouri, A
, 
A EL Rherbi

A EL Rherbi

Poison control and pharmacovigilance centerRabat, Morocco
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EL Rherbi, A
, 
I Ratbi

I Ratbi

Research Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in RabatRabat, Morocco
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Ratbi, I
, 
FZ Laarabi

FZ Laarabi

Life and Health Sciences Laboratory, Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essaâdi UniversityMorocco
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Laarabi, FZ
, 
R Chahboune

R Chahboune

Life and Health Sciences Laboratory, Faculty of Medicine and Pharmacy of Tangier, Abdelmalek Essaâdi UniversityMorocco
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Chahboune, R
, 
SC Elalaoui

SC Elalaoui

Research Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in RabatRabat, Morocco
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Elalaoui, SC
, 
H Hamdaoui

H Hamdaoui

Department of Medical Genetics and Oncogenetics, Mohammed VI University HospitalTangier, Morocco
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Hamdaoui, H
, 
RS Bencheikh

RS Bencheikh

Poison control and pharmacovigilance centerRabat, Morocco
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Bencheikh, RS
 oraz 
A Sefiani

A Sefiani

  • Research Center in Genomics of Human Pathologies (GENOPATH), Faculty of Medicine and Pharmacy, Mohammed V University in RabatRabat, Morocco
  • Department of Medical Genetics, National Institute of HealthRabat, Morocco
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Sefiani, A
  
Otwarty dostęp | 12 mar 2024
Severe Form of Salih Myopathy Caused by Combination of Two Heterozygous TTN Mutations
M Milojković

M Milojković

  • Institute for Child’s and Youth Health Care of Vojvodina
  • Novi Sad, Serbia, University of Novi Sad, Faculty of MedicineNovi Sad, Serbia
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Milojković, M
, 
M Jarić

M Jarić

Institute for Child’s and Youth Health Care of Vojvodina
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Jarić, M
, 
V Stojanović

V Stojanović

  • Institute for Child’s and Youth Health Care of Vojvodina
  • Novi Sad, Serbia, University of Novi Sad, Faculty of MedicineNovi Sad, Serbia
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Stojanović, V
, 
N Barišić

N Barišić

  • Institute for Child’s and Youth Health Care of Vojvodina
  • Novi Sad, Serbia, University of Novi Sad, Faculty of MedicineNovi Sad, Serbia
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Barišić, N
 oraz 
I Kavečan

I Kavečan

  • Institute for Child’s and Youth Health Care of Vojvodina
  • Novi Sad, Serbia, University of Novi Sad, Faculty of MedicineNovi Sad, Serbia
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Kavečan, I
  
Otwarty dostęp | 12 mar 2024
Experience with the Ketogenic Diet in a Boy with CLCN4 Related Neurodevelopmental Disorder
G Sager

G Sager

Department of Pediatric NeurologyIstanbul, Turkey
Profil Orcid
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Sager, G
, 
U Yukselmis

U Yukselmis

Department of Pediatric Intensive Care UnitIstanbul, Turkey
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Yukselmis, U
, 
O Güzel

O Güzel

Mediterranean Ketogenic Diet CenterIzmir, Turkey
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Güzel, O
, 
A Turkyilmaz

A Turkyilmaz

Department of Medical Genetics, Karadeniz Technical university Faculty of MedicineTrabzon, Turkey
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Turkyilmaz, A
 oraz 
M Akcay

M Akcay

Department of PediatricsIstanbul, Turkey
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Akcay, M
  

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