Found: 22
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A monoallelic UXS1 variant associated with short‐limbed short stature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2472
- By:
- Publication type:
- Article
Phenotypic expansion of ARSK‐related mucopolysaccharidosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3369, doi. 10.1002/ajmg.a.62934
- By:
- Publication type:
- Article
Prophylactic Allogeneic Hematopoietic Stem Cell Therapy for CSF1R-Related Leukoencephalopathy.
- Published in:
- 2022
- By:
- Publication type:
- letter
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 272, doi. 10.1002/ajmg.a.62492
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- Publication type:
- Article
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 24, p. 2300, doi. 10.1093/hmg/ddab192
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- Publication type:
- Article
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 23, p. 2300, doi. 10.1093/hmg/ddab192
- By:
- Publication type:
- Article
Positive response to imatinib in PDGFRB‐related Kosaki overgrowth syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2597, doi. 10.1002/ajmg.a.62264
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- Publication type:
- Article
Genpaneltesting.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2020, v. 140, n. 3, p. 224
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- Publication type:
- Article
En gravid kvinne med pancytopeni.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2019, v. 139, n. 17, p. 1671
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- Publication type:
- Article
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1447, doi. 10.1002/ajmg.a.38177
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- Publication type:
- Article
Prediktiv gentesting skal være til barnets beste.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2016, v. 136, n. 17, p. 1421, doi. 10.4045/tidsskr.16.0634
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- Publication type:
- Article
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1652, doi. 10.1038/ejhg.2015.30
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- Publication type:
- Article
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 494, doi. 10.1038/ejhg.2014.133
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- Publication type:
- Article
The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
En diagnostisk revolusjon.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2013, n. 15, p. 1550, doi. 10.4045/tidsskr.13.0747
- By:
- Publication type:
- Article
‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1146, doi. 10.1093/brain/awt021
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- Publication type:
- Article
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 4, p. 696, doi. 10.1093/hmg/dds477
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- Publication type:
- Article
Comment on the article 'Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri' by van den Munckhof et al.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1272, doi. 10.1038/ng.484
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- Publication type:
- Article
An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 7, p. 904, doi. 10.1038/ejhg.2008.261
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- Publication type:
- Article
Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies.
- Published in:
- 2008
- By:
- Publication type:
- journal article
A surrealistic mega-analysis of redisorganization theories.
- Published in:
- Journal of the Royal Society of Medicine, 2005, v. 98, n. 12, p. 563, doi. 10.1177/014107680509801223
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- Publication type:
- Article