E-LIB Suche - Ergebnisse für: Starr, Lois J

1

P277: Second individual with craniosynostosis and microdele..:

Rapoza, Rebekah ; Starr, Lois ; Abdul-Rahman, Omar.
Genetics in Medicine Open. 2 (2024) - p. 101173 , 2024

Link: https://doi.org/10.1016/..

2

P155: NBEA-related neurodevelopmental disease: expansion of..:

Dukkipati, Saihari ; Starr, Lois
Genetics in Medicine Open. 1 (2023) 1 - p. 100184 , 2023

Link: https://doi.org/10.1016/..

3

P238: Discovery of the phenotypic landscape and mechanistic..:

Lyon, Gholson ; Vedaie, Marall ; Beisheim, Travis...
Genetics in Medicine Open. 1 (2023) 1 - p. 100266 , 2023

Link: https://doi.org/10.1016/..

4

Expanding the phenotypic spectrum of NAA10-related neurodev..:

Lyon, Gholson J. ; Vedaie, Marall ; Beisheim, Travis...
European Journal of Human Genetics. 31 (2023) 7 - p. 824-833 , 2023

Link: https://doi.org/10.1038/..

5

Review of the Pathologic Characteristics in Myhre Syndrome:..:

Starr, Lois J ; Lindsay, Mark E ; Perry, Deborah...
Pediatric and Developmental Pathology. 25 (2022) 6 - p. 611-623 , 2022

Link: https://doi.org/10.1177/..

6

2022 Association of Professors of Human and Medical Genetic..:

Massingham, Lauren J. ; Nuñez, Sabrina ; Bernstein, Jonathan A....
Genetics in Medicine. 24 (2022) 10 - p. 2167-2179 , 2022

Link: https://doi.org/10.1016/..

7

CHEDDAsyndrome is an underrecognized neurodevelopmental dis..:

Palmer, Elizabeth E. ; Whitton, Chloe ; Hashem, Mais O....
Clinical Genetics. 100 (2021) 4 - p. 468-477 , 2021

Link: https://doi.org/10.1111/..

8

Siblings with biallelic TGFBR1 mutations and profound conne..:

Starr, Lois ; Lindsay, Mark ; Yetman, Anji
Molecular Genetics and Metabolism. 132 (2021) - p. S125 , 2021

Link: https://doi.org/10.1016/..

9

Biallelic GTF2IRD1 mutations in brothers with profound neur..:

Cummings, Christopher ; Starr, Lois
Molecular Genetics and Metabolism. 132 (2021) - p. S157-S158 , 2021

Link: https://doi.org/10.1016/..

10

Lack of resemblance between Myhre syndrome and other "segme..:

the Myhre Syndrome Foundation Professional Advisory Board ; Lin, Angela E. ; Brunetti-Pierri, Nicola...
GeroScience. 43 (2021) 2 - p. 459-461 , 2021

Link: https://doi.org/10.1007/..

11

Expanding the phenotype of HNRNPU-related disorders to incl..:

Scheffler, Jonah ; Starr, Lois ; Fishler, Kristen
Molecular Genetics and Metabolism. 132 (2021) - p. S136-S137 , 2021

Link: https://doi.org/10.1016/..

12

Third familial case of DNMT3A-related overgrowth syndrome: ..:

Schreier, Travis ; Cratsenberg, Drew ; Yetman, Anji.
Molecular Genetics and Metabolism. 132 (2021) - p. S186 , 2021

Link: https://doi.org/10.1016/..

13

Vascular dissection in women with Turner syndrome:

Yetman, Anji T. ; Bisselou, Karl Stessy M. ; Sanmann, Jennifer N....
International Journal of Cardiology. 325 (2021) - p. 127-131 , 2021

Link: https://doi.org/10.1016/..

14

The QT Interval in Patients With the Turner Syndrome:

Harrahill, Noah J. ; Yetman, Anji T. ; Danford, David A....
The American Journal of Cardiology. 140 (2021) - p. 118-121 , 2021

Link: https://doi.org/10.1016/..

15

A newborn's hyperinsulinemia workup results in discovering ..:

Null, Elizabeth ; Alhaijhusain, Mohamad ; Cratsenberg, Drew.
Molecular Genetics and Metabolism. 132 (2021) - p. S190 , 2021

Link: https://doi.org/10.1016/..