A study on pathogenicity of TGM1 gene mutations in a collodion baby

Chinese Journal of Dermatology ◽

10.35541/cjd.20200665 ◽

2021 ◽

Keyword(s):

Gene Mutations ◽

Collodion Baby

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WT1 GENE MUTATIONS IN DENYS‐DRASH AND FRASIER SYNDROME

Nephrology ◽

10.1046/j.1440-1797.2000.abs94.x ◽

2000 ◽

Vol 5 (3) ◽

pp. A110-A110

Author(s):

McTaggart Sj ◽

Algar E ◽

Chow Cw ◽

Powell Hr ◽

Jones CL.

Keyword(s):

Gene Mutations ◽

Wt1 Gene ◽

Frasier Syndrome

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Collodion baby (lamellar ichthyosis)

Archives of Dermatology ◽

10.1001/archderm.100.2.249 ◽

1969 ◽

Vol 100 (2) ◽

pp. 249-250

Author(s):

B. Schwimmer

Keyword(s):

Lamellar Ichthyosis ◽

Collodion Baby

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W14.379 Novel LDL-receptor gene mutations in Russian patients with familial hypercholesterolaemia

Atherosclerosis ◽

10.1016/s0021-9150(04)90378-4 ◽

2004 ◽

Vol 5 (1) ◽

pp. 88

Author(s):

A MESHKOV

Keyword(s):

Familial Hypercholesterolaemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Gene Mutations

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M.484 Novel CYP3A4 gene mutations: Contribution to the pharmacogenetic profile of hypercholesterolemic individuals treated with atorvastin

Atherosclerosis ◽

10.1016/s0021-9150(04)90482-0 ◽

2004 ◽

Vol 5 (1) ◽

pp. 112

Author(s):

S CAVALLI

Keyword(s):

Gene Mutations ◽

Cyp3a4 Gene

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1068: TP53 Gene Mutations as a Prognostic Marker for PSA Progression in Early Stage Prostate Cancer

The Journal of Urology ◽

10.1016/s0022-5347(18)38305-8 ◽

2004 ◽

Vol 171 (4S) ◽

pp. 282-282

Author(s):

Markus D. Sachs ◽

Horst Schlechte ◽

Katrin Schiemenz ◽

Severin V. Lenk ◽

Dietmar Schnorr ◽

...

Keyword(s):

Prostate Cancer ◽

Prognostic Marker ◽

Early Stage ◽

Gene Mutations ◽

Tp53 Gene ◽

Psa Progression ◽

Tp53 Gene Mutations

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EGF Receptor Gene Mutations Are Common in Lung Cancers From “Never Smokers” and Are Associated With Sensitivity of Tumors to Gefitinib and Erlotinib

Yearbook of Oncology ◽

10.1016/s1040-1741(08)70157-x ◽

2006 ◽

Vol 2006 ◽

pp. 223-225

Author(s):

N.H. Hanna

Keyword(s):

Egf Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Lung Cancers ◽

Never Smokers

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Abstract #942: A Rare Case of Dopamine Secreting Paraganglioma (PGL) in a Patient with SDHB and a Variant of Unknown Significance in Tmem127 Gene Mutations

Endocrine Practice ◽

10.1016/s1530-891x(20)45232-2 ◽

2016 ◽

Vol 22 ◽

pp. 217

Author(s):

Rujuta Katkar ◽

Adel Hanna ◽

Akshata Desai ◽

Antoine Makdissi

Keyword(s):

Rare Case ◽

Gene Mutations ◽

Variant Of Unknown Significance ◽

Unknown Significance

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Tiny, Spontaneous Gene Mutations May Boost Autism Risk

PsycEXTRA Dataset ◽

10.1037/e600482007-001 ◽

2006 ◽

Keyword(s):

Gene Mutations

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New Findings Offer More Complete View of Breast Cancer Gene Mutations in U.S. Population: NIH-Supported Study Among the First to Include African Americans, Older Women

PsycEXTRA Dataset ◽

10.1037/e621292007-001 ◽

2006 ◽

Keyword(s):

Breast Cancer ◽

African Americans ◽

Older Women ◽

Gene Mutations ◽

Cancer Gene ◽

New Findings ◽

Breast Cancer Gene

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Gene mutations causing primordial dwarfism discovered

Nature Middle East ◽

10.1038/nmiddleeast.2011.24 ◽

2011 ◽

Author(s):

Mohammed Yahia

Keyword(s):

Gene Mutations ◽

Primordial Dwarfism

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