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4. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

5. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

7. Elucidating the molecular basis of dynein based ciliopathies

8. IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

11. Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

12. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

13. Ciliary Dyneins and Dynein Related Ciliopathies

14. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

15. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

16. Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia

17. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

18. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

19. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

20. Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

21. A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

22. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

23. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

24. CiliaCarta: An integrated and validated compendium of ciliary genes

25. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

26. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

27. 'Good habits fade, bad habits develop' - Lehr-, Lern- und Prüfungsstrategien im Umgang mit der ärztlichen Sozialisation am Arbeitsplatz [Bericht über Entwicklungsprozess]

28. Identifizieren von leistungsgefährdeten Studierenden anhand Detailanalyse vorangegangener Prüfungsleistungen [Bericht über Entwicklungsprozess]

29. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

30. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

31. Primary cilia-regulated transcriptome in the renal collecting duct

32. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

33. Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis

34. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

35. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

36. Expanding the clinical phenotype of IARS2-related mitochondrial disease

39. Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

41. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.

42. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

43. Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature

44. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

45. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

46. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

47. Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum