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1. Pathogenic Variants in GPC4 Cause Keipert Syndrome

2. Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ 10 deficiency: Hypomorphic variants and two distinct disease entities.

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3. Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors.

4. Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.

5. A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.

6. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

7. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

8. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

9. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

10. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

11. Pathogenic Variants in GPC4 Cause Keipert Syndrome.

12. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

13. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

14. Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.

15. Detecting celiac disease in patients with Down syndrome.

16. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

17. National down syndrome patient database: Insights from the development of a multi-center registry study.

18. Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

19. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

20. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.