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Cockayne syndrome type 3 with dystonia‐ataxia and clicking blinks.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, p. S48, doi. 10.1002/mdc3.13778
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- Article
A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.
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- Molecular Syndromology, 2024, v. 15, n. 4, p. 347, doi. 10.1159/000537952
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- Article
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants.
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- Molecular Syndromology, 2024, v. 15, n. 4, p. 275, doi. 10.1159/000537831
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- Article
A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.
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- Molecular Syndromology, 2024, v. 15, n. 3, p. 217, doi. 10.1159/000535681
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- Article
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.
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- Molecular Syndromology, 2024, v. 15, n. 3, p. 175, doi. 10.1159/000535407
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- Article
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome.
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 258, doi. 10.1159/000528769
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- Article
Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients.
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- Molecular Syndromology, 2021, v. 12, n. 6, p. 335, doi. 10.1159/000516816
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- Article
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
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- Molecular Syndromology, 2021, v. 12, n. 2, p. 106, doi. 10.1159/000513078
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- Article
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
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- Molecular Syndromology, 2020, v. 11, n. 4, p. 207, doi. 10.1159/000510171
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- Article
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).
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- Molecular Syndromology, 2020, v. 11, n. 1, p. 38, doi. 10.1159/000505141
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- Article
3M sendromu.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2017, v. 60, n. 2, p. 56
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- Article
Mikrodelesyon sendromları.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2012, v. 55, n. 1, p. 42
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- Article
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 10, p. 816, doi. 10.1177/08830738211004736
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- Publication type:
- Article
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-60
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- Article
P-40 A rare cause of male infertility: 46, XX testicular disorder of sex development.
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- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.040
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- Publication type:
- Article
Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.
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- 2024
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- Correction Notice
Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 9, p. 3819, doi. 10.1007/s00431-024-05643-y
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- Article
Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?
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- European Journal of Pediatrics, 2022, v. 181, n. 2, p. 735, doi. 10.1007/s00431-021-04267-w
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- Article
Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63785
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- Publication type:
- Article
A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63629
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- Article
A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1119, doi. 10.1002/ajmg.a.63120
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- Article
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2367, doi. 10.1002/ajmg.a.62769
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- Publication type:
- Article
Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3104, doi. 10.1002/ajmg.a.62378
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- Article
Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1888, doi. 10.1002/ajmg.a.62179
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- Publication type:
- Article
A rare cause of syndromic short stature: 3M syndrome in three families.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 461, doi. 10.1002/ajmg.a.61989
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- Publication type:
- Article
Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1157, doi. 10.1002/ajmg.a.61154
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- Publication type:
- Article
Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2065, doi. 10.1002/ajmg.a.37122
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- Publication type:
- Article
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2667, doi. 10.1002/ajmg.a.36692
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- Publication type:
- Article
Barraquer-Simons syndrome: A rare clinical entity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1756, doi. 10.1002/ajmg.a.36491
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- Article
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3161, doi. 10.1002/ajmg.a.36173
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- Article
A newborn with overlapping features of AEC and EEC syndromes.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3100, doi. 10.1002/ajmg.a.34328
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- Article
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2022, v. 25, n. 6, p. 441, doi. 10.5223/pghn.2022.25.6.441
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- Article
Stuve-Wiedemann Sendromu: Nadir Bir Klinik Antite.
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- Gazi Medical Journal, 2020, v. 31, n. 4, p. 642, doi. 10.12996/gmj.2020.147
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- Article
Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond–Blackfan Anemia May Be Overlooked.
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- Turkish Archives of Pediatrics, 2024, v. 59, n. 4, p. 364, doi. 10.5152/TurkArchPediatr.2024.23193
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- Article
Mozaik Trizomi 8 Sendromu Tanılı Beş Olgunun Klinik Özelliklerinin Değerlendirilmesi: Olgu Serisi.
- Published in:
- Turkiye Klinikleri Journal of Pediatrics / Türkiye Klinikleri Pediatri Dergisi, 2023, v. 32, n. 2, p. 91, doi. 10.5336/pediatr.2023-95733
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- Article
Psychometric and Psychosocial Evaluation of Adolescents with Turner Syndrome in a Multidisiplinary Approach: A Preliminary Study.
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- Journal of Current Pediatrics / Guncel Pediatri, 2021, v. 19, n. 3, p. 363, doi. 10.4274/jcp.2021.04864
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- Article
Noonan Sendromunda Göz Bulguları: İki Olgu ve Literatürün Gözden Geçirilmesi.
- Published in:
- Journal of Glaucoma-Cataract / Glokom-Katarakt, 2017, v. 12, n. 3, p. 229
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- Article
A very rare case of a newborn with tetrasomy 9p and literature review.
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- Turkish Journal of Pediatrics, 2022, v. 64, n. 1, p. 171, doi. 10.24953/turkjped.2021.685
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- Publication type:
- Article
Peters Plus syndrome: a recognizable clinical entity.
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- Turkish Journal of Pediatrics, 2020, v. 62, n. 1, p. 136, doi. 10.24953/turkjped.2020.01.020
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- Publication type:
- Article
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
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- Turkish Journal of Pediatrics, 2018, v. 60, n. 5, p. 506, doi. 10.24953/turkjped.2018.05.006
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- Article
Anauxetic dysplasia: A rare clinical entity.
- Published in:
- Turkish Journal of Pediatrics, 2018, v. 60, n. 1, p. 89, doi. 10.24953/turkjped.2018.01.014
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- Publication type:
- Article
Clinical and molecular evaluation of 16 patients with Rett syndrome.
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- Turkish Journal of Pediatrics, 2018, v. 60, n. 1, p. 1, doi. 10.24953/turkjped.2018.01.001
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- Article
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 59, n. 6, p. 619, doi. 10.24953/turkjped.2017.06.001
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- Publication type:
- Article
A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures.
- Published in:
- Turkish Journal of Pediatrics, 2016, v. 58, n. 1, p. 97, doi. 10.24953/turkjped.2016.01.015
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- Article
Celiac disease in Williams-Beuren syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2014, v. 56, n. 2, p. 154
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- Publication type:
- Article
A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.
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- Turkish Journal of Pediatrics, 2014, v. 56, n. 1, p. 80
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- Publication type:
- Article
Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 4, p. 440
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- Publication type:
- Article
Emergency room management of acute bronchiolitis: a randomized trial of nebulized epinephrine.
- Published in:
- Turkish Journal of Pediatrics, 2011, v. 53, n. 6, p. 651
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- Publication type:
- Article
A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.
- Published in:
- Turkish Journal of Pediatrics, 2011, v. 53, n. 5, p. 558
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- Publication type:
- Article
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 2, p. 302, doi. 10.1002/pbc.24783
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- Publication type:
- Article