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July 9, 2019
June 11, 2019
May 28, 2019
April 30, 2019
April 2, 2019
March 19, 2019
March 12, 2019
March 5, 2019
February 26, 2019
February 19, 2019
February 12, 2019
February 5, 2019
January 29, 2019
January 15, 2019
January 8, 2019
December 4, 2018
November 13, 2018
October 23, 2018
- HDAC4 gene
- Is temperament determined by genetics?
- Systemic mastocytosis
- X-linked infantile spinal muscular atrophy
- Yuan-Harel-Lupski syndrome
October 2, 2018
September 18, 2018
September 11, 2018
- AMER1 gene
- GRIN2B gene
- GRIN2B-related neurodevelopmental disorder
- MBD5-associated neurodevelopmental disorder
- MBD5 gene
- Subcortical band heterotopia
- Wilms tumor
August 31, 2018
August 28, 2018
August 21, 2018
August 14, 2018
August 7, 2018
Updated Pages
August 6, 2019
- Catecholaminergic polymorphic ventricular tachycardia
- COL17A1 gene
- Familial restrictive cardiomyopathy
- Junctional epidermolysis bullosa
- LAMA3 gene
- LAMB3 gene
- LAMC2 gene
- N-acetylglutamate synthase deficiency
- NAGS gene
July 16, 2019
June 25, 2019
May 28, 2019
May 14, 2019
April 16, 2019
- Beta-propeller protein-associated neurodegeneration
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Dupuytren contracture
- Klinefelter syndrome
- PNP gene
- Purine nucleoside phosphorylase deficiency
April 2, 2019
March 19, 2019
March 12, 2019
March 5, 2019
- Adiposis dolorosa
- Autosomal recessive hyper-IgE syndrome
- Bohring-Opitz syndrome
- DNMT3A overgrowth syndrome
- DOORS syndrome
- Heterotaxy syndrome
- Hyperkalemic periodic paralysis
- Keratoderma with woolly hair
- Muenke syndrome
- PDGFRB gene
- Primary familial brain calcification
- SLC20A2 gene
- Spinal muscular atrophy with respiratory distress type 1
February 26, 2019
- ALG12-congenital disorder of glycosylation
- HAMP gene
- Hereditary hemochromatosis
- HFE gene
- HJV gene
- Ovarian cancer
- SLC40A1 gene
- Spinal muscular atrophy with lower extremity predominance
- Spinocerebellar ataxia type 3
- TFR2 gene
February 12, 2019
- Costeff syndrome
- FOXP2-related speech and language disorder
- Multiple sulfatase deficiency
- Nonbullous congenital ichthyosiform erythroderma
- OPA3 gene
February 5, 2019
January 15, 2019
January 8, 2019
January 2, 2019
December 11, 2018
December 4, 2018
- Allergic asthma
- Distal 18q deletion syndrome
- EDA gene
- EDAR gene
- EDARADD gene
- Hypohidrotic ectodermal dysplasia
- TCF4 gene
November 13, 2018
November 6, 2018
October 30, 2018
- Coloboma
- Dupuytren contracture
- Erythrokeratodermia variabilis et progressiva
- Fuchs endothelial dystrophy
- GJA1 gene
- GJB3 gene
- GJB4 gene
- LAMA2-related muscular dystrophy
- Rett syndrome
- Von Hippel-Lindau syndrome
October 23, 2018
- 2q37 deletion syndrome
- Charcot-Marie-Tooth disease
- Chromosome 17
- Congenital bilateral absence of the vas deferens
- Cyclic neutropenia
- GJB1 gene
- KIT gene
- Mevalonate kinase deficiency
- MFN2 gene
- MPZ gene
- PMP22 gene
- RAI1 gene
- SMN1 gene
- SMN2 gene
- Spinal muscular atrophy
October 16, 2018
October 2, 2018
September 25, 2018
September 11, 2018
- Chromosome 2
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- CTNNB1 gene
- CYP2C9 gene
- DCX gene
- Diamond-Blackfan anemia
- H19 gene
- Hereditary myopathy with early respiratory failure
- IGF2 gene
- PAFAH1B1 gene
- RPL5 gene
- RPL11 gene
- RPL35A gene
- RPS10 gene
- RPS17 gene
- RPS19 gene
- RPS24 gene
- RPS26 gene
- TTN gene
- VKORC1 gene
- Warfarin resistance
- Warfarin sensitivity
- WT1 gene