Found: 44
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Currarino syndrome associated with penoscrotal inversion and perineal fissure.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Reconstruction of quadriceps tendon with Achilles tendon allograft in older children with congenital dislocation of the knee.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 3, p. 360, doi. 10.4274/jcrpe.2798
- By:
- Publication type:
- Article
An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 79
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- Publication type:
- Article
Mercury Poisoning as a Cause of Intracranial Hypertension.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 6, p. 760, doi. 10.1177/0883073814538503
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- Publication type:
- Article
The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1814, doi. 10.1002/ajmg.a.63207
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- Publication type:
- Article
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2488, doi. 10.1002/ajmg.a.62261
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- Publication type:
- Article
Coronal craniosynostosis due to TCF12 mutations in patients from Turkey.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2241, doi. 10.1002/ajmg.a.61311
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- Publication type:
- Article
A novel AXIN2 gene mutation in sagittal synostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1976, doi. 10.1002/ajmg.a.40373
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- Publication type:
- Article
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 919, doi. 10.1002/ajmg.a.36955
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- Publication type:
- Article
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2311, doi. 10.1002/ajmg.a.36051
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- Publication type:
- Article
Clinical Vignette: Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in the TCIRGJ Gene in Five Osteopetrotic Patients.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 1, p. 162, doi. 10.1359/jbmr.080818
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- Publication type:
- Article
Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis.
- Published in:
- Journal of Bone & Mineral Research, 2003, v. 18, n. 10, p. 1740, doi. 10.1359/jbmr.2003.18.10.1740
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- Publication type:
- Article
Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome.
- Published in:
- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2010, v. 10, n. 5, p. 440, doi. 10.5152/akd.2010.143
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- Publication type:
- Article
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
- Published in:
- Human Genetics, 2018, v. 137, n. 6/7, p. 479, doi. 10.1007/s00439-018-1901-4
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- Publication type:
- Article
FMR1 Gene Mutation Analysis and CGG Repeat Number Distribution from a Single Center.
- Published in:
- Gazi Medical Journal, 2022, v. 33, n. 4, p. 369, doi. 10.12996/gmj.2022.83
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- Publication type:
- Article
Clinical expression of familial Williams-Beuren syndrome in a Turkish family.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 1/2, p. 153, doi. 10.1515/jpem-2013-0167
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- Publication type:
- Article
Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.
- Published in:
- Turkish Archives of Pediatrics, 2023, v. 58, n. 4, p. 376, doi. 10.5152/TurkArchPediatr.2023.23011
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- Publication type:
- Article
Early postoperative follow-up after craniosynostosis surgery.
- Published in:
- Turkish Journal of Medical Sciences, 2018, v. 48, n. 3, p. 584, doi. 10.3906/sag-1711-29
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- Publication type:
- Article
Expanding the clinical and molecular features of trichorhino-phalangeal syndrome with a novel variant.
- Published in:
- Turkish Journal of Pediatrics, 2023, v. 65, n. 1, p. 81, doi. 10.24953/turkjped.2022.793
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- Publication type:
- Article
Celiac disease in patients with Williams-Beuren syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 6, p. 599
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- Publication type:
- Article
Bilateral congenital cataracts in an infant with Klinefelter syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2014, v. 56, n. 5, p. 546
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- Publication type:
- Article
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
- Published in:
- Turkish Journal of Pediatrics, 2014, v. 56, n. 4, p. 418
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- Publication type:
- Article
The association of Klinefelter syndrome and multiple pterygium syndrome: an unusual presentation.
- Published in:
- Turkish Journal of Pediatrics, 2013, v. 55, n. 5, p. 559
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- Publication type:
- Article
Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies.
- Published in:
- Turkish Journal of Pediatrics, 2009, v. 51, n. 5, p. 453
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- Publication type:
- Article
Aplasia cutis congenita: three cases with three different underlying etiologies.
- Published in:
- Turkish Journal of Pediatrics, 2009, v. 51, n. 5, p. 510
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- Publication type:
- Article
Neutrophil Oxidative Metabolism in Down Syndrome Patients With Congenital Heart Defects.
- Published in:
- Environmental & Molecular Mutagenesis, 2010, v. 51, n. 1, p. 57, doi. 10.1002/em.20511
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- Publication type:
- Article
Bone mineral density in patients with mucopolysaccharidosis type III.
- Published in:
- 2017
- By:
- Publication type:
- journal article
PHACES syndrome presenting as hemangiomas, sternal clefting and congenital ulcerations on the helices.
- Published in:
- Journal of Dermatology, 2006, v. 33, n. 3, p. 219, doi. 10.1111/j.1346-8138.2006.00050.x
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- Publication type:
- Article
Prenatal Diagnosis of Mobile Flap-Like Tissue on the Ventricular Septal Defect in a Newborn with Trisomy 18.
- Published in:
- Echocardiography, 2011, v. 28, n. 9, p. E191, doi. 10.1111/j.1540-8175.2011.01502.x
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- Publication type:
- Article
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05191-8
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- Publication type:
- Article
Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 349, doi. 10.1002/ajmg.a.33811
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- Publication type:
- Article
Interleukin-1 Β, Tumor Necrosis Factor-α, and Nitrite Levels in Febrile Seizures.
- Published in:
- Journal of Child Neurology, 2002, v. 17, n. 10, p. 749, doi. 10.1177/08830738020170101501
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- Publication type:
- Article
Novel Gene Variants Associated with Primary Ciliary Dyskinesia.
- Published in:
- Indian Journal of Pediatrics, 2022, v. 89, n. 7, p. 682, doi. 10.1007/s12098-022-04098-z
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- Publication type:
- Article
Prenatal diagnosis of Gollop-Wolfgang complex (tibial agenesis and femoral bifurcation).
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 2, p. 182, doi. 10.1002/pd.2204
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- Publication type:
- Article
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1071, doi. 10.1002/humu.21167
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- Publication type:
- Article
SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 371, doi. 10.1002/humu.20863
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- Publication type:
- Article
Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects.
- Published in:
- Journal of Pediatric Research, 2022, v. 9, n. 3, p. 302, doi. 10.4274/jpr.galenos.2022.76993
- By:
- Publication type:
- Article
Çocukluk Çağında Poland Sendromu: Klinik Bulgularının Değerlendirilmesi.
- Published in:
- Journal of Pediatric Research, 2016, v. 3, n. 1, p. 30, doi. 10.4274/jpr.63835
- By:
- Publication type:
- Article
Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2012, v. 4, n. 2, p. 101, doi. 10.4274/Jcrpe.619
- By:
- Publication type:
- Article
Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability.
- Published in:
- Cytogenetic & Genome Research, 2021, v. 161, n. 3/4, p. 153, doi. 10.1159/000515368
- By:
- Publication type:
- Article
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006683
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- Publication type:
- Article