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1
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis
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Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis

Chorin, Odelia ; Yachelevich, Naomi ; Mohamed, Khaled ; Moscatelli, Ilana ; Pappas, John ; Henriksen, Kim ; Evrony, Gilad D.

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1405-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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2
Exome sequencing in 51 early onset non‐familial CRC cases
Exome sequencing in 51 early onset non‐familial CRC cases
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Exome sequencing in 51 early onset non‐familial CRC cases

Thutkawkorapin, Jessada ; Lindblom, Annika ; Tham, Emma

Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e605-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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3
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
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Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

Lundin, Johanna ; Markljung, Ellen ; Baranowska Körberg, Izabella ; Hofmeister, Wolfgang ; Cao, Jia ; Nilsson, Daniel ; Holmdahl, Gundela ; Barker, Gillian ; Anderberg, Magnus ; Vukojević, Vladana ; Lindstrand, Anna ; Nordenskjöld, Agneta

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e666-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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4
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein
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Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein

Dominguez‐Valentin, Mev ; Drost, Mark ; Therkildsen, Christina ; Rambech, Eva ; Ehrencrona, Hans ; Angleys, Maria ; Lau Hansen, Thomas ; Wind, Niels ; Nilbert, Mef ; Juel Rasmussen, Lene

Molecular genetics & genomic medicine, 2014-07, Vol.2 (4), p.352-355 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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