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Microtomographic Analysis of Lower Urinary Tract Obstruction.
- Published in:
- Pediatric & Developmental Pathology, 2013, v. 16, n. 6, p. 405, doi. 10.2350/13-08-1359-OA.1
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- Publication type:
- Article
Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39337-0
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- Publication type:
- Article
Mild phenotype in two siblings with distal monosomy 12p13.31→pter.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 5, p. 401, doi. 10.1034/j.1399-0004.2000.570513.x
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- Publication type:
- Article
MerTK is a mediator of alpha-synuclein fibril uptake by human microglia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 427, doi. 10.1093/brain/awad298
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- Publication type:
- Article
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
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- Epilepsia (Series 4), 2009, v. 50, n. 5, p. 1167, doi. 10.1111/j.1528-1167.2008.01816.x
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- Publication type:
- Article
An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 12, p. 1529, doi. 10.1111/j.0013-9580.2003.61702.x
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- Publication type:
- Article
Hedgehog Signaling Pathway Orchestrates Human Lung Branching Morphogenesis.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 5265, doi. 10.3390/ijms23095265
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- Publication type:
- Article
Epidermolysis bullosa simplex Dowling–Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
- Published in:
- Australasian Journal of Dermatology, 2002, v. 43, n. 1, p. 28, doi. 10.1046/j.1440-0960.2002.00548.x
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- Publication type:
- Article
Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 3, p. 374, doi. 10.1002/ajmg.c.31656
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- Publication type:
- Article
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2482, doi. 10.1002/ajmg.a.63309
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- Publication type:
- Article
A unique cardiovascular presentation of Marfan syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2443, doi. 10.1002/ajmg.a.62865
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- Publication type:
- Article
The spectrum of brain malformations and disruptions in twins.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972
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- Publication type:
- Article
Genotype–phenotype correlation at codon 1740 of SETD2.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2037, doi. 10.1002/ajmg.a.61724
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- Publication type:
- Article
Healthcare recommendations for Joubert syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 229, doi. 10.1002/ajmg.a.61399
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- Publication type:
- Article
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1543, doi. 10.1002/ajmg.a.61266
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- Publication type:
- Article
Cover Image, Volume 176A, Number 7, July 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. i, doi. 10.1002/ajmg.a.40365
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- Publication type:
- Article
Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1675, doi. 10.1002/ajmg.a.38839
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- Publication type:
- Article
Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1398, doi. 10.1002/ajmg.a.38726
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- Publication type:
- Article
Novel pregnancy-triggered episodes of CAPOS syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 235, doi. 10.1002/ajmg.a.38502
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- Publication type:
- Article
Mortality in Joubert syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1237, doi. 10.1002/ajmg.a.38158
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- Publication type:
- Article
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2181, doi. 10.1002/ajmg.a.37727
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- Publication type:
- Article
Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2393, doi. 10.1002/ajmg.a.35561
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- Publication type:
- Article
The Cape Observatory at 200.
- Published in:
- Astronomy & Geophysics, 2020, v. 61, n. 5, p. 5.34, doi. 10.1093/astrogeo/ataa074
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- Publication type:
- Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
- Published in:
- Nature Genetics, 2012, v. 44, n. 2, p. 193, doi. 10.1038/ng.1078
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- Publication type:
- Article
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 882, doi. 10.1038/ng2069
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- Publication type:
- Article
Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 8, p. 789, doi. 10.1002/(SICI)1097-0223(199808)18:8<789::AID-PD345>3.0.CO;2-9
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- Publication type:
- Article
The Heritage Treasures of Toppieshoek.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2024, v. 83, n. 7/8, p. 85
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- Publication type:
- Article
My years as an Astronomer.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2023, v. 82, n. 3/4, p. 56
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- Publication type:
- Article
Prof. Donald Lynden-Bell CBE, FRS.
- Published in:
- 2018
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- Publication type:
- Obituary
A case of true hermaphroditism reveals an unusual mechanism of twinning.
- Published in:
- Human Genetics, 2007, v. 121, n. 2, p. 179, doi. 10.1007/s00439-006-0279-x
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- Publication type:
- Article
Ring chromosome 15: characterization by array CGH.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 611, doi. 10.1007/s00439-005-0030-z
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- Publication type:
- Article
Joubert syndrome (and related disorders) (OMIM 213300).
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 511, doi. 10.1038/sj.ejhg.5201648
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- Publication type:
- Article
Aortic Root Dilatation is a Rare Complication of Noonan Syndrome.
- Published in:
- Pediatric Cardiology, 2006, v. 27, n. 4, p. 478, doi. 10.1007/s00246-006-1210-x
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- Publication type:
- Article
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.
- Published in:
- Skeletal Radiology, 2012, v. 41, n. 5, p. 607, doi. 10.1007/s00256-011-1261-9
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- Publication type:
- Article
Differences in Oral Structure and Tissue Interactions during Mouse vs. Human Palatogenesis: Implications for the Translation of Findings from Mice.
- Published in:
- Frontiers in Physiology, 2017, v. 8, p. 1, doi. 10.3389/fphys.2017.00154
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- Publication type:
- Article
Cover Image, Volume 530, Issue 1.
- Published in:
- Journal of Comparative Neurology, 2022, v. 530, n. 1, p. 1, doi. 10.1002/cne.25287
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- Publication type:
- Article
Cellular resolution anatomical and molecular atlases for prenatal human brains.
- Published in:
- Journal of Comparative Neurology, 2022, v. 530, n. 1, p. 6, doi. 10.1002/cne.25243
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- Publication type:
- Article
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 5, p. 1370, doi. 10.1093/brain/aws065
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- Publication type:
- Article
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 1046, doi. 10.1002/acn3.51786
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- Publication type:
- Article
Recessive mutations in VPS13D cause childhood onset movement disorders.
- Published in:
- 2018
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- Publication type:
- journal article
Retinoic acid signaling regulates spatiotemporal specification of human green and red cones.
- Published in:
- PLoS Biology, 2024, v. 22, n. 1, p. 1, doi. 10.1371/journal.pbio.3002464
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- Publication type:
- Article
The Jewel on the Mountaintop: Fifty years of the European Southern Observatory.
- Published in:
- 2013
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- Publication type:
- Book Review
Mapping South Africa: A Historical Survey of South African Maps and Charts.
- Published in:
- 2012
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- Publication type:
- Book Review
Astronomy Delights.
- Published in:
- 2012
- By:
- Publication type:
- Book Review
McClean Telescope back in service.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2012, v. 71, n. 3/4, p. 58
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- Publication type:
- Article
New Directors for SA Observatories.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2012, v. 71, n. 3/4, p. 51
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- Publication type:
- Article
An Introduction to Star Formation.
- Published in:
- 2011
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- Publication type:
- Book Review
In the footsteps of La Caille, Everest and Maclear on the Kapokberg.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2011, v. 70, n. 7/8, p. 144
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- Publication type:
- Article
Visit to Super-Kamiokande.
- Published in:
- MNASSA: Monthly Notes of the Astronomical Society of Southern Africa, 2011, v. 70, n. 1/2, p. 12
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- Publication type:
- Article
Eyes on the Skies: 400 Years of Telescope Technology.
- Published in:
- 2009
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- Publication type:
- Book Review