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Severe fetal hydronephrosis: the added value of associated congenital anomalies of the kidneys and urinary tract (CAKUT) in the prediction of postnatal outcome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
- Published in:
- Human Genetics, 2012, v. 131, n. 11, p. 1805, doi. 10.1007/s00439-012-1207-x
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- Publication type:
- Article
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00425
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- Publication type:
- Article
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00425
- By:
- Publication type:
- Article
A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 7, p. 1623, doi. 10.1007/s00467-021-05374-4
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- Publication type:
- Article
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 12, p. 4009, doi. 10.1007/s00467-021-05216-3
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- Publication type:
- Article
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 9, p. 1607, doi. 10.1007/s00467-019-04256-0
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- Publication type:
- Article
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 12, p. 2273, doi. 10.1007/s00467-017-3755-8
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- Publication type:
- Article
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0787-x
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- Publication type:
- Article
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
- Published in:
- Human Genetics, 2023, v. 142, n. 5, p. 691, doi. 10.1007/s00439-022-02486-1
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- Publication type:
- Article
Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation.
- Published in:
- Acta Haematologica, 2021, v. 144, n. 3, p. 327, doi. 10.1159/000509968
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- Publication type:
- Article
Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Vici syndrome in Israel: Clinical and molecular insights.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.991721
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- Publication type:
- Article
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.936064
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- Publication type:
- Article
Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01280-z
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- Publication type:
- Article
BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.665
- By:
- Publication type:
- Article
Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1140, doi. 10.3390/genes12081140
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- Publication type:
- Article
LMOD3‐Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.
- Published in:
- Journal of Ultrasound in Medicine, 2018, v. 37, n. 7, p. 1827, doi. 10.1002/jum.14520
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- Publication type:
- Article
Nonobstructive Diffuse Dilated Bowel Loops: Prenatal Diagnosis, Fetal Characteristics and Neonatal Outcomes.
- Published in:
- Journal of Ultrasound in Medicine, 2017, v. 36, n. 1, p. 149, doi. 10.7863/ultra.16.01097
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- Publication type:
- Article
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.
- Published in:
- Nutrients, 2021, v. 13, n. 10, p. 3523, doi. 10.3390/nu13103523
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- Publication type:
- Article
Reversal of Intestinal Failure With Teduglutide in PERCC1 -Associated Enteropathy: A Case Report.
- Published in:
- Annals of Internal Medicine, 2024, v. 177, n. 8, p. 1141, doi. 10.7326/M24-0147
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- Publication type:
- Article
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98646-w
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- Publication type:
- Article
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 689, doi. 10.1007/s10545-016-9956-7
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- Publication type:
- Article
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 69, doi. 10.1002/humu.23345
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- Publication type:
- Article
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 45, doi. 10.1159/000519099
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- Publication type:
- Article
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.
- Published in:
- Pediatric Rheumatology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12969-019-0349-y
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- Publication type:
- Article
Costeff syndrome: clinical features and natural history.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 12, p. 2275, doi. 10.1007/s00415-014-7481-x
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- Publication type:
- Article
Bitterness of Glucose/Galactose: Novel Mutations in the SLC5A1 Gene.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3262, doi. 10.1002/ajmg.a.62946
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- Publication type:
- Article
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3804, doi. 10.1002/ajmg.a.62453
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- Publication type:
- Article
A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 987, doi. 10.1002/ajmg.a.61509
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- Publication type:
- Article
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2112, doi. 10.1002/ajmg.a.61334
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- Publication type:
- Article
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 8, p. 801, doi. 10.1007/s10875-016-0340-z
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- Publication type:
- Article
Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8200, doi. 10.3390/ijms21218200
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- Publication type:
- Article
Dissecting Stages of Human Kidney Development and Tumorigenesis with Surface Markers Affords Simple Prospective Purification of Nephron Stem Cells.
- Published in:
- Scientific Reports, 2016, p. 23562, doi. 10.1038/srep23562
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- Publication type:
- Article