Found: 55
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Aortic dilation in pediatric patients.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A case of minimal change disease in a Fabry patient.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Widening phenotypic spectrum of GABBR2 mutation.
- Published in:
- 2019
- By:
- Publication type:
- Letter
An infant with ash-leaf and café au lait spots: a case of double phakomatosis.
- Published in:
- Acta Neurologica Belgica, 2017, v. 117, n. 1, p. 323, doi. 10.1007/s13760-016-0638-x
- By:
- Publication type:
- Article
Speech, language, and feeding phenotypes of SATB2‐associated syndrome.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 6, p. 485, doi. 10.1111/cge.13619
- By:
- Publication type:
- Article
Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 951, doi. 10.1515/jpem-2013-0484
- By:
- Publication type:
- Article
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/8200176
- By:
- Publication type:
- Article
Mutation update for the SATB2 gene.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1013, doi. 10.1002/humu.23771
- By:
- Publication type:
- Article
Nuclear radiation and prevalence of structural birth defects among infants born to women from the Marshall Islands.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 16, p. 1192, doi. 10.1002/bdr2.1551
- By:
- Publication type:
- Article
Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls.
- Published in:
- Pediatric Cardiology, 2020, v. 41, n. 6, p. 1199, doi. 10.1007/s00246-020-02375-2
- By:
- Publication type:
- Article
Impact of Aortic Aneurysm on Hospitalizations in Patients with Marfan Syndrome: A Multi-Institutional Study.
- Published in:
- Pediatric Cardiology, 2015, v. 36, n. 1, p. 132, doi. 10.1007/s00246-014-0976-5
- By:
- Publication type:
- Article
Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
- Published in:
- Cleft Palate Craniofacial Journal, 2015, v. 52, n. 2, p. 237, doi. 10.1597/13-221
- By:
- Publication type:
- Article
Intestinal Malrotation in a Patient With Pfeiffer Syndrome Type 2.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Behavioral phenotype and sleep problems in SATB2-associated syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Pediatric Quality of Life in Anderson-Fabry Disease: A Review.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 1, p. 8
- By:
- Publication type:
- Article
Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome.
- Published in:
- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/8868458
- By:
- Publication type:
- Article
SATB2-associated syndrome (SAS) and associated dental findings.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Introduction to the special issue on Clinical Genetics in Latin America.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 873, doi. 10.1002/ajmg.c.31875
- By:
- Publication type:
- Article
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1373, doi. 10.1093/brain/awac364
- By:
- Publication type:
- Article
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
- Published in:
- Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 55, doi. 10.1093/brain/awz379
- By:
- Publication type:
- Article
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Dental radiographic findings in 18 individuals with SATB2-associated syndrome.
- Published in:
- Clinical Oral Investigations, 2018, v. 22, n. 8, p. 2947, doi. 10.1007/s00784-018-2702-9
- By:
- Publication type:
- Article
Case Report: SATB2 -Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.692087
- By:
- Publication type:
- Article
Novel Fibrillin 1 Mutation in a Case of Neonatal Marfan Syndrome: The Increasing Importance of Early Recognition.
- Published in:
- Congenital Heart Disease, 2007, v. 2, n. 5, p. 342, doi. 10.1111/j.1747-0803.2007.00123.x
- By:
- Publication type:
- Article
Bone health in SATB2‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 203, doi. 10.1002/ajmg.a.63421
- By:
- Publication type:
- Article
Growth in individuals with SATB2‐associated syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2952, doi. 10.1002/ajmg.a.62896
- By:
- Publication type:
- Article
Craniosynostosis is a feature of Costello syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1280, doi. 10.1002/ajmg.a.62620
- By:
- Publication type:
- Article
Genetic and phenotypic heterogeneity in KIAA0753‐related ciliopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 104, doi. 10.1002/ajmg.a.62497
- By:
- Publication type:
- Article
SATB2‐associated syndrome in adolescents and adults.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2391, doi. 10.1002/ajmg.a.62258
- By:
- Publication type:
- Article
Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1047, doi. 10.1002/ajmg.a.61145
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- Publication type:
- Article
Cover Image, Volume 176A, Number 4, April 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1, doi. 10.1002/ajmg.a.38671
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- Publication type:
- Article
Natural history and genotype‐phenotype correlations in 72 individuals with <italic>SATB2</italic>‐associated syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 925, doi. 10.1002/ajmg.a.38630
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- Publication type:
- Article
Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 487, doi. 10.1002/ajmg.a.38532
- By:
- Publication type:
- Article
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2814, doi. 10.1002/ajmg.a.38404
- By:
- Publication type:
- Article
Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1194, doi. 10.1002/ajmg.a.38138
- By:
- Publication type:
- Article
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 327, doi. 10.1002/ajmg.a.38022
- By:
- Publication type:
- Article
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 1967, doi. 10.1002/ajmg.a.37722
- By:
- Publication type:
- Article
First clinical report of an infant with microcephaly and CASC5 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2215, doi. 10.1002/ajmg.a.37726
- By:
- Publication type:
- Article
COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1858, doi. 10.1002/ajmg.a.37664
- By:
- Publication type:
- Article
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2168, doi. 10.1002/ajmg.a.37126
- By:
- Publication type:
- Article
STAR syndrome is part of the differential diagnosis of females with anorectal malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1940, doi. 10.1002/ajmg.a.37078
- By:
- Publication type:
- Article
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1026, doi. 10.1002/ajmg.a.36849
- By:
- Publication type:
- Article
Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1998, doi. 10.1002/ajmg.a.36601
- By:
- Publication type:
- Article
Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1857, doi. 10.1002/ajmg.a.36515
- By:
- Publication type:
- Article
Clinical utility of the X-chromosome array.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 120, doi. 10.1002/ajmg.a.35698
- By:
- Publication type:
- Article
Lethal presentation of neurofibromatosis and Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1360, doi. 10.1002/ajmg.a.33996
- By:
- Publication type:
- Article
47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 386, doi. 10.1002/ajmg.a.33799
- By:
- Publication type:
- Article
Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation.
- Published in:
- 2014
- By:
- Publication type:
- Case Study