E-LIB Suche - Ergebnisse für: Kinning, Esther

1

Diagnosis of inborn errors of metabolism through prenatal e..:

Allen, Stephanie K. ; Chandler, Natalie J. ; Kinning, Esther...
Prenatal Diagnosis. 44 (2023) 4 - p. 432-442 , 2023

Link: https://doi.org/10.1002/..

2

Fetal hydrops caused by a novel pathogenic MECOM variant:

Wall, Elizabeth ; Forsyth, Joan ; Kinning, Esther.
Prenatal Diagnosis. 43 (2023) 6 - p. 717-720 , 2023

Link: https://doi.org/10.1002/..

3

Maternally inherited autosomal dominant PLAG‐1 related Silv..:

Tse, Wing Ting ; Bass, Charlotte ; Gurney, Leo.
Prenatal Diagnosis. 43 (2023) 6 - p. 724-726 , 2023

Link: https://doi.org/10.1002/..

4

Progressive osseous heteroplasia: A case report with an une..:

Boncompagni, Alessandra ; Lucas-Herald, Angela K. ; Beattie, Paula...
Bone Reports. 18 (2023) - p. 101665 , 2023

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

5

Next Generation Sequencing after Invasive Prenatal Testing ..:

Emms, Alexandra ; Castleman, James ; Allen, Stephanie...
Genes. 13 (2022) 9 - p. 1517 , 2022

Link: https://doi.org/10.3390/..

6

First case of desmosterolosis diagnosed by prenatal whole e..:

Hill, Chloe ; Noureldein, Mona ; Karkhanis, Pallavi...
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 859-863 , 2022

Link: https://doi.org/10.1002/..

7

Phenotype delineation of ZNF462 related syndrome:

Kruszka, Paul ; Hu, Tommy ; Hong, Sungkook...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2075-2082 , 2019

Link: https://doi.org/10.1002/..

8

Heterozygous CTNNB1 and TBX4 variants in a patient with abn..:

Karolak, Justyna A. ; Szafranski, Przemyslaw ; Kilner, David...
Clinical Genetics. 96 (2019) 4 - p. 366-370 , 2019

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

9

Pathogenicity and selective constraint on variation near sp..:

Lord, Jenny ; Gallone, Giuseppe ; Short, Patrick J....
Genome Research. 29 (2018) 2 - p. 159-170 , 2018

Link: https://doi.org/10.1101/..

10

Expanding the phenotypic spectrum of variants in PDE4D/PRKA..:

Michot, Caroline ; Le Goff, Carine ; Blair, Edward...
European Journal of Human Genetics. 26 (2018) 11 - p. 1611-1622 , 2018

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

11

Further delineation of an entity caused by CREBBP and EP300..:

Menke, Leonie A. ; Gardeitchik, Thatjana ; Hammond, Peter...
American Journal of Medical Genetics Part A. 176 (2018) 4 - p. 862-876 , 2018

Link: https://doi.org/10.1002/..

12

Proteomic Evidence of Biological Aging in a Child with a Co..:

Lucas‐Herald, Angela K ; Zürbig, Petra ; Mason, Avril...
PROTEOMICS – Clinical Applications. 13 (2018) 2 - p. , 2018

Link: https://doi.org/10.1002/..

13

Clinical features associated with CTNNB1 de novo loss of fu..:

Kharbanda, Mira ; Pilz, Daniela T. ; Tomkins, Susan...
European Journal of Medical Genetics. 60 (2017) 2 - p. 130-135 , 2017

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

14

Integrating population variation and protein structural ana..:

Laskowski, Roman A. ; Tyagi, Nidhi ; Johnson, Diana...
Human Molecular Genetics. 25 (2016) 5 - p. 927-935 , 2016

Link: https://doi.org/10.1093/..

15

A Case of Functional Growth Hormone Deficiency and Early Gr..:

Lucas-Herald, Angela K. ; Kinning, Esther ; Iida, Aritoshi...
The Journal of Clinical Endocrinology & Metabolism. 100 (2015) 4 - p. 1221-1224 , 2015

Link: https://doi.org/10.1210/..