机译:Tonsl中的双位式变体导致弹性发育不良和骨骼发育不良表型的光谱
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Univ Birmingham Inst Canc &
Genom Sci Birmingham B15 2TT W Midlands England;
Univ Montreal Ctr Hosp Univ St Justine Res Ctr Montreal PQ H3T 1J4 Canada;
Univ Oregon Inst Neurosci Eugene OR 97403 USA;
Univ Oregon Inst Neurosci Eugene OR 97403 USA;
Univ Montreal Ctr Hosp Univ St Justine Res Ctr Montreal PQ H3T 1J4 Canada;
Univ Birmingham Inst Canc &
Genom Sci Birmingham B15 2TT W Midlands England;
Baylor Coll Med Dept Mol Physiol &
Biophys Houston TX 77030 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Kennedy Krieger Inst Dept Bone &
Osteogenesis Imperfecta Baltimore MD 21205 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Univ Edinburgh Western Gen Hosp Med Res Council Inst Genet &
Mol Med Crewe Rd Edinburgh EH4 2XU;
Univ Utah Div Pediat Endocrinol &
Diabet Salt Lake City UT 84112 USA;
Univ Toronto Mt Sinai Hosp Dept Obstet &
Gynecol Prenatal Diag &
Med Genet Program Toronto ON;
Baylor Coll Med Dept Pediat Houston TX 77030 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Texas Childrens Hosp Div Diabet &
Endocrinol Houston TX 77030 USA;
Texas Childrens Hosp Dept Pediat Radiol Houston TX 77030 USA;
Seattle Childrens Hosp Seattle WA 98195 USA;
Seattle Childrens Hosp Seattle WA 98195 USA;
Univ Melbourne Murdoch Childrens Res Inst Victorian Clin Genet Serv Parkville Vic 3052;
Baylor Coll Med Human Genome Sequencing Ctr Houston TX 77030 USA;
Baylor Coll Med Human Genome Sequencing Ctr Houston TX 77030 USA;
Baylor Coll Med Human Genome Sequencing Ctr Houston TX 77030 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Univ Oregon Inst Neurosci Eugene OR 97403 USA;
Univ Oregon Inst Neurosci Eugene OR 97403 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Univ Geneva Geneva Univ Hosp Serv Genet Med Med Sch CH-1205 Geneva Switzerland;
Univ Paris 05 Hop Necker Enfants Malades AP HP Dept Genet INSEAM UMR1163 Sorbonne Paris Cite Ins;
Univ Paris 05 Hop Necker Enfants Malades AP HP Dept Genet INSEAM UMR1163 Sorbonne Paris Cite Ins;
Associated Reg &
Univ Pathologists Labs Salt Lake City UT 84108 USA;
Associated Reg &
Univ Pathologists Labs Salt Lake City UT 84108 USA;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Texas Childrens Hosp Div Pediat Immunol Allergy &
Rheumatol Houston TX 77030 USA;
Univ Sao Paulo Inst Crianca Clin Genet Unit Hosp Clin Fac Med BR-05403000 Sao Paulo SP Brazil;
Univ Sao Paulo Inst Crianca Clin Genet Unit Hosp Clin Fac Med BR-05403000 Sao Paulo SP Brazil;
Univ Sao Paulo Inst Crianca Clin Genet Unit Hosp Clin Fac Med BR-05403000 Sao Paulo SP Brazil;
Kansas Univ Med Ctr Dept Psychiat Kansas City KS 66160 USA;
Univ Toronto Hosp Sick Children Dept Ophthalmol &
Vis Sci Toronto ON M5G 1X8 Canada;
Hamad Med Corp Weill Cornell Med Dept Allergy &
Immunol Sidra Med Doha Qatar;
Univ Calif Los Angeles Dept Mol Cell &
Dev Biol Los Angeles CA 90095 USA;
Univ Calif Los Angeles David Geffen Sch Med Dept Orthopaed Surg Dept Human Genet Los Angeles;
Univ Edinburgh Inst Genet &
Mol Med Med Res Council Human Genet Unit Edinburgh EH4 2XU;
Great Ormond St Hosp Sick Children North East Thames Reg Genet Serv London WC1N 3JH England;
Univ Sheffield Acad Unit Child Hlth Dept Oncol &
Metab Sheffield S10 2TH S Yorkshire England;
Associated Reg &
Univ Pathologists Labs Salt Lake City UT 84108 USA;
Univ Utah Dept Pediat Div Med Genet Salt Lake City UT 84112 USA;
Univ Birmingham Inst Canc &
Genom Sci Birmingham B15 2TT W Midlands England;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
Univ Montreal Ctr Hosp Univ St Justine Res Ctr Montreal PQ H3T 1J4 Canada;
Baylor Coll Med Dept Mol &
Human Genet Houston TX 77030 USA;
机译:Tonsl中的双位式变体导致弹性发育不良和骨骼发育不良表型的光谱
机译:具有骨骼发育异常表型的COL2A1基因变异IN136患者的扩展谱
机译:双级等位基因CSF1R突变导致骨静脉粥样硬化 - PYLE病的骨骼发育不良和脑畸形的退化性脑病
机译:扩张的心肌病和心律失常右心室发育不良:从基因到表型
机译:外胚层发育不良(ED)和非综合征人群的齿龈发育不足的表型表征和候选基因分型
机译:TONSL中的双等位基因变异导致脊柱前突发育不良和一系列骨骼发育异常表型
机译:Tonsl中的双等异种变体导致弹性发育不良和骨骼发育不良表型的光谱