E-LIB Suche - Ergebnisse für: Bertoli, Marta

1

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) i..:

Watts, Laura M. ; Bertoli, Marta ; Attie-Bitach, Tania...
European Journal of Human Genetics. , 2024

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

2

Delivery of a national prenatal exome sequencing service in..:

Peter, Michelle ; Mellis, Rhiannon ; McInnes-Dean, Hannah...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

3

'Something that helped the whole picture': Experiences of p..:

McInnes‐Dean, Hannah ; Mellis, Rhiannon ; Daniel, Morgan...
Prenatal Diagnosis. 44 (2024) 4 - p. 465-479 , 2024

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

4

International retrospective natural history study of LMNA-r..:

Ben Yaou, Rabah ; Yun, Pomi ; Dabaj, Ivana...
Brain Communications. 3 (2021) 3 - p. , 2021

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

5

Identification of LAMA1 mutations ends diagnostic odyssey a..:

Powell, Laura ; Olinger, Eric ; Wedderburn, Sarah...
Brain Communications. 3 (2021) 3 - p. , 2021

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

6

Nine newly identified individuals refine the phenotype asso..:

Windheuser, Isabelle C. ; Becker, Jessica ; Cremer, Kirsten...
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1021-1031 , 2020

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

7

Sequential targeted exome sequencing of 1001 patients affec..:

Töpf, Ana ; Johnson, Katherine ; Bates, Adam...
Genetics in Medicine. 22 (2020) 9 - p. 1478-1488 , 2020

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

8

The clinical presentation caused by truncating CHD8 variant:

Douzgou, Sofia ; Liang, Hui Wen ; Metcalfe, Kay...
Clinical Genetics. 96 (2019) 1 - p. 72-84 , 2019

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

9

The CHD8 overgrowth syndrome: A detailed evaluation of an e..:

Ostrowski, Philip J. ; Zachariou, Anna ; Loveday, Chey...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 181 (2019) 4 - p. 557-564 , 2019

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

10

Detection of variants in dystroglycanopathy-associated gene..:

Johnson, Katherine ; Bertoli, Marta ; Phillips, Lauren...
Skeletal Muscle. 8 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

11

Mesomelia‐synostoses syndrome: Description of a patient pre..:

Dardis, Andrea ; Pianta, Annalisa ; Zampieri, Stefania...
Clinical Genetics. 95 (2018) 2 - p. 336-338 , 2018

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

12

Autosomal recessive primary microcephaly due to ASPM mutati..:

Létard, Pascaline ; Drunat, Séverine ; Vial, Yoann...
Human Mutation. 39 (2018) 3 - p. 319-332 , 2018

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

13

Exome sequences versus sequential gene testing in the UK hi..:

Harris, Elizabeth ; Topf, Ana ; Barresi, Rita...
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

14

Congenital muscular dystrophies in the UK population: Clini..:

Sframeli, Maria ; Sarkozy, Anna ; Bertoli, Marta...
Neuromuscular Disorders. 27 (2017) 9 - p. 793-803 , 2017

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

15

Identification of GAA variants through whole exome sequenci..:

Johnson, Katherine ; Töpf, Ana ; Bertoli, Marta...
Orphanet Journal of Rare Diseases. 12 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..