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Looking for the skeleton in the closet—rare genetic diagnoses in patients with diabetes and skeletal manifestations.
- Published in:
- Acta Diabetologica, 2022, v. 59, n. 5, p. 711, doi. 10.1007/s00592-022-01854-7
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- Publication type:
- Article
Gene expression microarray profiles of cumulus cells in lean and overweight-obese polycystic ovary syndrome patients.
- Published in:
- Molecular Human Reproduction, 2009, v. 15, n. 2, p. 89
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- Publication type:
- Article
Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.
- Published in:
- 2019
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- Publication type:
- journal article
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
- Published in:
- 2018
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- Publication type:
- journal article
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma.
- Published in:
- Journal of Medical Virology, 2024, v. 96, n. 2, p. 1, doi. 10.1002/jmv.29436
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- Publication type:
- Article
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
- Published in:
- Human Genetics, 2024, v. 143, n. 5, p. 695, doi. 10.1007/s00439-024-02671-4
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- Publication type:
- Article
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1167
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- Publication type:
- Article
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 6, p. 533, doi. 10.1007/s10038-006-0394-5
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- Publication type:
- Article
Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice‐site mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2768, doi. 10.1002/ajmg.a.63359
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- Publication type:
- Article
Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1506, doi. 10.1002/ajmg.a.61577
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- Publication type:
- Article
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1293, doi. 10.1002/ajmg.a.61138
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- Publication type:
- Article
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2695, doi. 10.1002/ajmg.a.40668
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- Publication type:
- Article
A novel homozygous <italic>SLC25A1</italic> mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 330, doi. 10.1002/ajmg.a.38574
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- Publication type:
- Article
Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein.
- Published in:
- Nature Genetics, 2006, v. 38, n. 7, p. 749, doi. 10.1038/ng1813
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- Publication type:
- Article
Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0654-1
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- Publication type:
- Article
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0315-1
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- Publication type:
- Article
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0314-2
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- Publication type:
- Article
ZNF750 Is Expressed in Differentiated Keratinocytes and Regulates Epidermal Late Differentiation Genes.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042628
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- Publication type:
- Article
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00364-x
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- Publication type:
- Article
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00364-x
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- Publication type:
- Article
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1729, doi. 10.1038/ejhg.2014.241
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- Publication type:
- Article
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 703, doi. 10.1038/ejhg.2013.212
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- Publication type:
- Article
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 374, doi. 10.1038/ejhg.2013.159
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- Publication type:
- Article
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 942, doi. 10.1038/ejhg.2011.74
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- Publication type:
- Article
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 52, doi. 10.1038/sj.ejhg.5201088
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- Publication type:
- Article
CSI-OMIM - Clinical Synopsis Search in OMIM.
- Published in:
- BMC Bioinformatics, 2011, v. 12, n. 1, p. 65, doi. 10.1186/1471-2105-12-65
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- Publication type:
- Article
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
- Published in:
- JAMA Ophthalmology, 2024, v. 142, n. 7, p. 609, doi. 10.1001/jamaophthalmol.2024.1461
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- Publication type:
- Article
A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.
- Published in:
- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/3470234
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- Publication type:
- Article
Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
- Published in:
- 2019
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- Publication type:
- journal article
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 671, doi. 10.1111/cge.14502
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- Publication type:
- Article
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 1, p. 44, doi. 10.1111/cge.14432
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- Publication type:
- Article
De‐novo "germline second hit" loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 571, doi. 10.1111/cge.14384
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- Publication type:
- Article
PSMC1 variant causes a novel neurological syndrome.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 4, p. 324, doi. 10.1111/cge.14195
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- Publication type:
- Article
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 123, doi. 10.1111/cge.14143
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- Publication type:
- Article
B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 920, doi. 10.1111/cge.13735
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- Publication type:
- Article
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 303, doi. 10.1111/cge.13805
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- Publication type:
- Article
A novel leaky splice variant in centromere protein J (CENPJ)‐associated Seckel syndrome.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 5, p. 245, doi. 10.1111/ahg.12469
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- Publication type:
- Article
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 5, p. 361, doi. 10.1111/ahg.12317
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- Publication type:
- Article
Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy.
- Published in:
- Molecular Diagnosis & Therapy, 2022, v. 26, n. 5, p. 561, doi. 10.1007/s40291-022-00601-6
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- Publication type:
- Article
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 744, doi. 10.1002/jimd.12594
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- Publication type:
- Article
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6485, doi. 10.1093/hmg/ddv357
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- Publication type:
- Article
Natural History and Clinical Manifestations of Hyponatremia and Hyperchlorhidrosis due to Carbonic Anhydrase XII Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 5, p. 336, doi. 10.1159/000358327
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- Publication type:
- Article
Hsp60 peptide therapy of NOD mouse diabetes induces a Th2 cytokine burst and downregulates autoimmunity to various beta-cell antigens.
- Published in:
- 1997
- By:
- Publication type:
- journal article
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 140, doi. 10.1002/humu.23903
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- Publication type:
- Article
PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1671, doi. 10.1002/humu.23310
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- Publication type:
- Article
A Deletion Mutation in TMEM38 B Associated with Autosomal Recessive Osteogenesis Imperfecta.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 582, doi. 10.1002/humu.22274
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- Publication type:
- Article
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1435, doi. 10.1002/humu.22122
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- Publication type:
- Article
Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases.
- Published in:
- 2010
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- Publication type:
- Other
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 355, doi. 10.3390/genes15030355
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- Publication type:
- Article