Suchergebnisse - "Duncan, Emma L"

PubPharm (10)

1

Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2023

von Hassan, N. | Gregson, C. | Tang, H. | +13

2

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism : First reported case

enthalten in: American journal of medical genetics. Part A | 2021

von Närhi, A. | Fernandes, A. | Toiviainen-Salo, S. | +5

3

Multiple Endocrine Tumors Associated with Germline MAX Mutations : Multiple Endocrine Neoplasia Type 5?

enthalten in: The Journal of clinical endocrinology and metabolism | 2021

von Seabrook, A. | Harris, J. | Velosa, S. | +17

4

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

enthalten in: Molecular genetics & genomic medicine | 2020

von McInerney-Leo, A. | West, J. | Wheeler, L. | +6

5

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY) : A novel ABCC8 mutation in a previously screened family

enthalten in: Journal of diabetes | 2018

von Johnson, S. | Leo, P. | Conwell, L. | +3

6

A novel INS mutation in a family with maturity-onset diabetes of the young : Variable insulin secretion and putative mechanisms

enthalten in: Pediatric diabetes | 2018

von Johnson, S. | McGown, I. | Oppermann, U. | +3

7

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement : Extending the phenotypic spectrum

enthalten in: American journal of medical genetics. Part A | 2017

von McInerney-Leo, A. | Wheeler, L. | Marshall, M. | +6

8

Primary amenorrhoea with hypertension : undiagnosed 17-α-hydroxylase deficiency

enthalten in: The Medical journal of Australia | 2013

von Britten, F. | Ulett, K. | Duncan, E. | +1

9

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

enthalten in: American journal of human genetics | 2013

von McInerney-Leo, A. | Schmidts, M. | Cortés, C. | +15

10

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

enthalten in: PLoS genetics | 2011

von Glazov, E. | Zankl, A. | Donskoi, M. | +5

CommentIn: Clin Genet. 2011 Aug;80(2):134-6. - PMID 21534943

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