Prof. Dr. Adnan YÜKSEL

Yayın Ağı

Makaleler 20

1. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Karaca E., Harel T., Pehlivan D., Jhangiani S. N., Gambin T., Akdemir Z. C., et al.

NEURON , cilt.88, sa.3, ss.499-513, 2015 (SCI-Expanded, Scopus)

2. Demographic and Clinical Findings of Cerebral Palsy Patients in Istanbul: A Multicenter Study

Yalcinkaya E. Y., Huner B., Dincer U., Diracoglu D., Aydin R., Icagasioglu A., et al.

TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION , cilt.60, sa.2, ss.134-138, 2014 (SCI-Expanded, Scopus, TRDizin)

3. Keutel Syndrome: Report of Two Novel MGP Mutations and Discussion of Clinical Overlap With Arylsulfatase E Deficiency and Relapsing Polychondritis

Weaver K. N., El Hallek M., Hopkin R. J., Sund K. L., Henrickson M., del Gaudio D., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.4, ss.1062-1068, 2014 (SCI-Expanded, Scopus)

4. A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia

Gezdirici A., YENİGÜN A., Koparir E., Yosunkaya E., Ulucan H., Seven M., et al.

CLINICAL DYSMORPHOLOGY , cilt.22, sa.1, ss.33-35, 2013 (SCI-Expanded, Scopus)

5. Vanishing white matter leukodystrophy, A rare case report Kaybolan beyaz madde hastalıǧı; nadir birolgu

Güler S., Yüksel A., Işcan A., Işık I., Tatli B.

Turk Pediatri Arsivi , cilt.48, sa.1, ss.78-79, 2013 (SCI-Expanded, Scopus, TRDizin)

6. Genetics Of Cardiomyopathies

ÖZEN M., Karaca E., YÜKSEL A.

Turkiye Klinikleri J Cardiol-Special Topics , cilt.4, ss.5-12, 2011 (Hakemli Dergi)

7. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome

Uzumcu A., Karaman B., Toksoy G., Uyguner Z. O., Candan S., Eris H., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.52, sa.5, ss.315-320, 2009 (SCI-Expanded, Scopus)

8. Mutational screening of BASP1 and transcribed processed pseudogene TP Psi g-BASP1 in patients with Mobius syndrome

Uzumcu A., Candan S., Toksoy G., Uyguner Z. O., Karaman B., Eris H., et al.

JOURNAL OF GENETICS AND GENOMICS , cilt.36, sa.4, ss.251-256, 2009 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

9. Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome With Novel OCRL1 Gene Mutation

Yuksel A., Karaca E., Albayram M. S.

JOURNAL OF CHILD NEUROLOGY , cilt.24, sa.1, ss.93-96, 2009 (SCI-Expanded, Scopus)

10. Spontaneous intracranial hypotension syndrome in a patient with Marfan syndrome and autosomal dominant polycystic kidney disease

Albayram S., Bas A., Ozer H., Dikici S., Gulertan S. Y., Yuksel A.

HEADACHE , cilt.48, sa.4, ss.632-636, 2008 (SCI-Expanded, Scopus)

11. Supernumerary chromosome der(22)t(11;22): Emanuel sydrome associates with novel features.

YOSUNKAYA E., SAĞCI GÜVEN G., KURU R. D., YILMAZ Ş., TARKAN ARGÜDEN Y., ÇIRAKOĞLU A., et al.

GENETIC COUNSELING , cilt.18, sa.4, ss.401-408, 2007 (SCI-Expanded)

12. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Brancati F., Barrano G., Silhavy J. L., Marsh S. E., Travaglini L., Bielas S. L., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.81, sa.1, ss.104-113, 2007 (SCI-Expanded, Scopus)

13. Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency

Yuksel A., Seven M., Cetincelik Ü., Yesil G., köksal v.

PEDIATRIC NEUROLOGY , cilt.34, sa.6, ss.486-489, 2006 (SCI-Expanded, Scopus)

14. Neuroblastoma in a dysmorphic girl with a partial duplication of 2p caused by an unbalanced translocation

Seven M., Karaman B., Hacihanefioglu S., Deviren A., Yuksel A., Basaran S.

CLINICAL DYSMORPHOLOGY , cilt.11, sa.1, ss.39-42, 2002 (SCI-Expanded, Scopus)

15. Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature

HACIHANEFIOGLU S., GUVEN G., Deviren A., Silahtaroğlu A., FENERCI E., OZKILIC A., et al.

GENETIC COUNSELING , cilt.13, sa.1, ss.41-48, 2002 (SCI-Expanded, Scopus)

16. A case of acampomelic campomelic dysplasia

Ozkilic A. Ç., Seven M., Yuksel A.

GENETIC COUNSELING , cilt.13, sa.1, ss.23-28, 2002 (SCI-Expanded, Scopus)

17. Changes in the antioxidant system in epileptic children receiving antiepileptic drugs: Two-year prospective studies

Yuksel A., Cengiz M., Seven M., Ulutin T.

JOURNAL OF CHILD NEUROLOGY , cilt.16, ss.603-606, 2001 (SCI-Expanded, Scopus)

18. A case of symbrachydactyly with oligodactyly

Seven M., Yuksel A., Ozkilic A. Ç.

GENETIC COUNSELING , cilt.12, sa.1, ss.77-83, 2001 (SCI-Expanded, Scopus)

19. The effects of carbamazepine and valproic acid on the erythrocyte glutathione, glutathione peroxidase, superoxide dismutase and serum lipid peroxidation in epileptic children

Cengiz M., Yuksel A., Seven M.

PHARMACOLOGICAL RESEARCH , cilt.41, ss.423-425, 2000 (SCI-Expanded) Sürdürülebilir Kalkınma

20. N-acetyl-beta-glucosaminidase and beta-galactosidase activity in children receiving antiepileptic drugs

Yuksel A., Cengiz M., Seven M., Cengiz S., Cenani A.

PEDIATRIC NEUROLOGY , cilt.20, ss.24-26, 1999 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 8

1. Russel-Silver Syndrome, A Follow Up Study

Elçioğlu N., Tüysüz B., Seven M., YÜKSEL A., CENGİZ M., Cenani A.

5 th Regional Congress of pediatric societies of Turkish Speaking Countries With International Participation, Biskek, Kırgızistan, 25 - 28 Eylül 1999, ss.103, (Tam Metin Bildiri)