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169 results on '"Wegner, Daniel J."'

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1. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

2. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

3. Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21

4. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

5. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

11. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

12. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

13. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

14. TUBB4Bvariants specifically impact ciliary function, causing a ciliopathic spectrum

16. Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.

20. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

22. BiallelicASCC1variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 ( SMABF2 )

23. Dominant missense variants in SREBF2are associated with complex dermatological, neurological, and skeletal abnormalities

24. Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly

25. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration

27. Functional Genomics of ABCA3 Variants

30. Phenotypic expansion of KMT2D‐ related disorder: Beyond Kabuki syndrome

35. Informed Consent for Genetic Research

38. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

39. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial

40. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

41. Novel exon-skipping variant disrupting the basic domain of HCFC1causes intellectual disability without metabolic abnormalities in both male and female patients

44. Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN )

45. Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome

46. SMC4Loss of Function Is a New Cause of Inherited Bone Marrow Failure

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