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PubPharm (321)
1
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Forghani, I.
|
Lang, S.
|
Rodier, M.
| +106
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2
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
enthalten in:
bioRxiv.org
| 2024
von
Stergachis, A.
|
Blue, E.
|
Gillentine, M.
| +32
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3
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Dohrn, M.
|
Bademci, G.
|
Rebelo, A.
| +110
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4
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Ezell, K.
|
Tinker, R.
|
Furuta, Y.
| +110
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5
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Donkervoort, S.
|
Mohassel, P.
|
O'Leary, M.
| +121
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6
De novo variants in DENND5B cause a neurodevelopmental disorder
enthalten in:
American journal of human genetics
| 2024
von
Scala, M.
|
Tomati, V.
|
Ferla, M.
| +134
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7
Exome and genome sequencing in a heterogeneous population of patients with rare disease : Identifying predictors of a diagnosis
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Pucel, J.
|
Briere, L.
|
Reuter, C.
| +103
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8
LUSTR : a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
enthalten in:
BMC genomics
| 2024
von
Lu, J.
|
Toro, C.
|
Adams, D.
| +107
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9
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Ward, S.
|
Wadley, A.
|
Tsai, C.
| +117
ErratumIn: Am J Med Genet A. 2024 Feb 7;:e63558. - PMID 38327012
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10
Correction : Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Savige, J.
|
Storey, H.
|
Watson, E.
| +40
ErratumFor: Eur J Hum Genet. 2021 Aug;29(8):1186-1197. - PMID 33854215
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Seminars in vascular surgery
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