Found: 19
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Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
- Published in:
- Human Genetics, 2003, v. 114, n. 1, p. 68, doi. 10.1007/s00439-003-1012-7
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- Publication type:
- Article
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 5, p. 230, doi. 10.1007/s10038-005-0243-y
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- Publication type:
- Article
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371
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- Publication type:
- Article
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 18, p. 3462, doi. 10.1093/hmg/ddp290
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- Publication type:
- Article
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
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- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08493-7
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- Publication type:
- Article
WAGR Syndrome in a Baby -- The Result of 6-MP Treatment in a Father Affected by Crohn's Disease?
- Published in:
- 2001
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- Publication type:
- Letter
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 11, p. 857, doi. 10.1002/pd.1000
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- Publication type:
- Article
Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 8, p. 649, doi. 10.1002/pd.370
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- Publication type:
- Article
TRISOMY 2: CONFINED PLACENTAL MOSAICISM IN A FETUS WITH INTRAUTERINE GROWTH RETARDATION.
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- Prenatal Diagnosis, 1997, v. 17, n. 2, p. 180, doi. 10.1002/(SICI)1097-0223(199702)17:2<180::AID-PD31>3.0.CO;2-#
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- Publication type:
- Article
Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel.
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- Prenatal Diagnosis, 1995, v. 15, n. 10, p. 967, doi. 10.1002/pd.1970151012
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- Publication type:
- Article
Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033412
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- Publication type:
- Article
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.
- Published in:
- 2007
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- Publication type:
- journal article
Physiology: The regulatory role of tri-iodothyronine on the production of α-fetoprotein and albumin by mouse fetal liver cells*.
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- Human Reproduction, 1993, v. 8, n. 10, p. 1576
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- Publication type:
- Article
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
- Published in:
- 2015
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- Publication type:
- journal article
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2801, doi. 10.1002/ajmg.a.34240
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- Publication type:
- Article
Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 577, doi. 10.1002/ajmg.a.33104
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- Publication type:
- Article
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.
- Published in:
- Human Mutation, 2001, v. 18, n. 5, p. 460, doi. 10.1002/humu.1222
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- Publication type:
- Article
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
- Published in:
- Human Mutation, 2015, v. 36, n. 9, p. 836, doi. 10.1002/humu.22822
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- Publication type:
- Article
Duodenal web in the syndrome of osteopathia striata with cranial sclerosis.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 6, p. 329, doi. 10.1111/j.1399-0004.1996.tb03802.x
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- Publication type:
- Article