Schmidts, Miriam, 1978-
Miriam Schmidts researcher
Schmidts, M.
VIAF ID: 74951522 (Personal)
Permalink: http://viaf.org/viaf/74951522
Preferred Forms
- 100 0 _ ‡a Miriam Schmidts ‡c researcher
-
- 100 1 _ ‡a Schmidts, Miriam ‡d 1978-
- 100 1 _ ‡a Schmidts, Miriam, ‡d 1978-
4xx's: Alternate Name Forms (2)
5xx's: Related Names (2)
Works
Title | Sources |
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A 57 kB genomic deletion causing CTNS loss of function contributes to the CTNS mutational spectrum in the Middle East | |
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders | |
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy | |
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking | |
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function | |
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination | |
Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder | |
CiliaCarta: an integrated and validated compendium of ciliary genes | |
Ciliary dyneins and dynein related ciliopathies | |
Citrin deficiency mimicking mitochondrial depletion syndrome | |
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease | |
Emerging principles of primary cilia dynamics in controlling tissue organization and function | |
Expanding the clinical phenotype of IARS2-related mitochondrial disease | |
Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia | |
Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine | |
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases | |
A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome | |
Hypomorphic mutations of TRIP11 cause dontochondrodysplasia | |
Identical IFT140 variants cause variable skeletal ciliopathy phenotypes - challenges for the accurate diagnosis | |
Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update | |
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome | |
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans | |
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT) | |
Isolated hypomethylation of IGF2 associated with severe hypoglycemia responsive to growth hormone treatment | |
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) | |
Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects | |
Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy | |
Neph-Proteine interagieren mit dem Multiadapterprotein ZO-1 | |
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes | |
Parental whole-exome sequencing enables Sialidosis type II diagnosis due to an NEU1 missense mutation as an underlying cause of Nephrotic syndrome in the child | |
Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism | |
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects | |
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease | |
Renal and skeletal anomalies in a cohort of individuals with clinically presumed hereditary nephropathy analyzed by molecular genetic testing | |
Riboflavin 1 transporter deficiency : novel SLC52A1 variants and expansion of the phenotypic spectrum | |
Role of the polarity protein Scribble for podocyte differentiation and maintenance | |
Spectrum of genetic variants in a cohort of 37 laterality defect cases | |
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |