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29 results on '"Herget, Theresia"'

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1. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

2. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

4. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

5. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

6. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

7. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

8. Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.

10. Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

11. A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype.

13. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

14. TMCO3, a Putative K+:Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans.

16. Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

17. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

18. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

19. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

20. Congenital disorders of glycosylation with defective fucosylation

21. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

23. Nine newly identified individuals refine the phenotype associated with MYT1L mutations

24. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.

28. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

29. TMCO3, a Putative K + :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans.

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