Found: 34
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Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.
- Published in:
- Pediatric Surgery International, 2020, v. 36, n. 11, p. 1309, doi. 10.1007/s00383-020-04751-8
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- Publication type:
- Article
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
- Published in:
- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0286-0
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- Publication type:
- Article
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
- Published in:
- Journal of Bone & Mineral Research, 2024, v. 39, n. 3, p. 287, doi. 10.1093/jbmr/zjad020
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- Article
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2279, doi. 10.1093/hmg/ddt618
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- Publication type:
- Article
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 5, p. 574, doi. 10.1002/pd.6133
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- Publication type:
- Article
Prenatal phenotype of congenital hyperparathyroidism.
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- Prenatal Diagnosis, 2012, v. 32, n. 9, p. 906, doi. 10.1002/pd.3912
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- Publication type:
- Article
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in <bold>EFEMP2</bold>.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 190, doi. 10.1159/000489838
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- Publication type:
- Article
The mutation spectrum in RECQL4 diseases.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 151, doi. 10.1038/ejhg.2008.154
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- Publication type:
- Article
Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.802351
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- Publication type:
- Article
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 587, doi. 10.1111/cge.14397
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- Publication type:
- Article
Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 251, doi. 10.1111/cge.13798
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- Publication type:
- Article
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746
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- Publication type:
- Article
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 723, doi. 10.1111/cge.13700
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- Publication type:
- Article
LEF1 haploinsufficiency causes ectodermal dysplasia.
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- Clinical Genetics, 2020, v. 97, n. 4, p. 595, doi. 10.1111/cge.13714
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- Publication type:
- Article
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 309, doi. 10.1111/cge.13591
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- Publication type:
- Article
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.
- Published in:
- Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915
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- Publication type:
- Article
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
- Published in:
- 2021
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- Publication type:
- journal article
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0438-4
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- Publication type:
- Article
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
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- Human Mutation, 2019, v. 40, n. 11, p. 1993, doi. 10.1002/humu.23845
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- Publication type:
- Article
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
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- Human Mutation, 2016, v. 37, n. 9, p. 847, doi. 10.1002/humu.23026
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- Publication type:
- Article
Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16 A2/ MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation.
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- Human Mutation, 2013, v. 34, n. 7, p. 1018, doi. 10.1002/humu.22331
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- Publication type:
- Article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- 2019
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- Publication type:
- Correction Notice
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
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- Publication type:
- Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
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- Publication type:
- Article
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 22, p. 3662, doi. 10.1093/hmg/ddaa258
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- Publication type:
- Article
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1366, doi. 10.1002/ajmg.a.62102
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- Publication type:
- Article
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
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- Publication type:
- Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878
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- Publication type:
- Article
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
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- Publication type:
- Article
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36081
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- Publication type:
- Article
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2277, doi. 10.1002/ajmg.a.35494
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- Publication type:
- Article
Pseudoaminopterin syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2233, doi. 10.1002/ajmg.a.35212
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- Publication type:
- Article
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients.
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- Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 9, p. 1818, doi. 10.1111/jdv.19996
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- Publication type:
- Article
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 3, p. 1, doi. 10.1371/journal.pgen.1005894
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- Publication type:
- Article