Found: 44
Select item for more details and to access through your institution.
Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 3, p. 216, doi. 10.1034/j.1399-0004.1999.560306.x
- By:
- Publication type:
- Article
The Bedside Dysmorphologist.
- Published in:
- 2008
- By:
- Publication type:
- Book Review
TECPR2‐related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63579
- By:
- Publication type:
- Article
Expanding the phenotype of TAB2 variants and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3331, doi. 10.1002/ajmg.a.62949
- By:
- Publication type:
- Article
Further delineation of phenotypic spectrum of SCN2A‐related disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 867, doi. 10.1002/ajmg.a.62595
- By:
- Publication type:
- Article
Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2445, doi. 10.1002/ajmg.a.62350
- By:
- Publication type:
- Article
Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1939, doi. 10.1002/ajmg.a.61628
- By:
- Publication type:
- Article
Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1637, doi. 10.1002/ajmg.a.61599
- By:
- Publication type:
- Article
Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 553, doi. 10.1002/ajmg.a.61449
- By:
- Publication type:
- Article
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 253, doi. 10.1002/ajmg.a.38550
- By:
- Publication type:
- Article
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2244, doi. 10.1002/ajmg.a.36073
- By:
- Publication type:
- Article
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2027, doi. 10.1002/ajmg.a.36005
- By:
- Publication type:
- Article
Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: New syndrome?
- Published in:
- 2012
- By:
- Publication type:
- Other
Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1102, doi. 10.1002/ajmg.a.35296
- By:
- Publication type:
- Article
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 947, doi. 10.1038/ng.2670
- By:
- Publication type:
- Article
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 527, doi. 10.1038/ng.822
- By:
- Publication type:
- Article
Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
- Published in:
- Nature Genetics, 2000, v. 24, n. 4, p. 438, doi. 10.1038/74307
- By:
- Publication type:
- Article
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 8, p. 1, doi. 10.1371/journal.pgen.1006957
- By:
- Publication type:
- Article
Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans.
- Published in:
- Annals of the New York Academy of Sciences, 2009, v. 1151, p. 38, doi. 10.1111/j.1749-6632.2008.03452.x
- By:
- Publication type:
- Article
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).
- Published in:
- Pediatric Radiology, 2011, v. 41, n. 3, p. 384, doi. 10.1007/s00247-010-1928-8
- By:
- Publication type:
- Article
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.
- Published in:
- Skin Health & Disease, 2024, v. 4, n. 5, p. 1, doi. 10.1002/ski2.394
- By:
- Publication type:
- Article
Opinion: Of eponyms, acronyms and ... orthonyms.
- Published in:
- Nature Reviews Genetics, 2003, v. 4, n. 2, p. 152, doi. 10.1038/nrg997
- By:
- Publication type:
- Article
Cassidy and Allanson: Management of Genetic Syndromes, 3rd edition.
- Published in:
- 2011
- By:
- Publication type:
- Book Review
Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 5, p. 614, doi. 10.3390/brainsci11050614
- By:
- Publication type:
- Article
An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 401, doi. 10.1038/ejhg.2014.120
- By:
- Publication type:
- Article
Molecular and clinical delineation of the 17q22 microdeletion phenotype.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1085, doi. 10.1038/ejhg.2012.306
- By:
- Publication type:
- Article
Alagille syndrome: pathogenesis, diagnosis and management.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 251, doi. 10.1038/ejhg.2011.181
- By:
- Publication type:
- Article
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 513, doi. 10.1038/ejhg.2010.234
- By:
- Publication type:
- Article
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 674, doi. 10.1038/ejhg.2009.241
- By:
- Publication type:
- Article
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 648, doi. 10.1038/ejhg.2009.246
- By:
- Publication type:
- Article
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3392, doi. 10.1093/brain/aws231
- By:
- Publication type:
- Article
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
- By:
- Publication type:
- Article
Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 693, doi. 10.1111/cge.13533
- By:
- Publication type:
- Article
Families dealing with the uncertainty of genetic disorders: the case of Neurofibromatosis Type 1.
- Published in:
- Sociology of Health & Illness, 2016, v. 38, n. 5, p. 753, doi. 10.1111/1467-9566.12401
- By:
- Publication type:
- Article
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Abnormal vertebral segmentation and the notch signaling pathway in man.
- Published in:
- Developmental Dynamics, 2007, v. 236, n. 6, p. 1456, doi. 10.1002/dvdy.21182
- By:
- Publication type:
- Article
Phenotypic Multiple Endocrine Neoplasia Type 2B, Without Endocrinopathy or RET Gene Mutation: Implications for Management.
- Published in:
- Thyroid, 2006, v. 16, n. 6, p. 605
- By:
- Publication type:
- Article
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 7, p. 575, doi. 10.1002/pd.643
- By:
- Publication type:
- Article
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1089, doi. 10.1002/humu.21170
- By:
- Publication type:
- Article
Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 12, p. 2030, doi. 10.1093/hmg/ddl127
- By:
- Publication type:
- Article
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1413, doi. 10.1093/hmg/ddl064
- By:
- Publication type:
- Article
Okihiro syndrome is caused by SALL4 mutations.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 23, p. 2979, doi. 10.1093/hmg/11.23.2979
- By:
- Publication type:
- Article
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1467
- By:
- Publication type:
- Article
Genetic studies into inherited and sporadic hemolytic uremic syndrome.
- Published in:
- 1998
- By:
- Publication type:
- journal article