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GeneReviews and /
* GeneReviews / NCBI / NIH / UW entry on Li-Fraumeni
Syndrome
* GeneReviews / NIH / NCBI / UW entry on Perry syndrome
* GeneReviews / NCBI / NIH / UW entry on X-Linked Dystonia-Parkinsonism
* GeneReviews / NCBI / UW / NIH entry on Canavan disease
* GeneReviews / NCBI / NIH / UW entry on hexosaminidase A deficiency, Tay – Sachs disease
* GeneReviews / NCBI / NIH / UW entry on PRSS1-Related Hereditary Pancreatitis
* GeneReviews / NCBI / NIH / UW entry on 46, XX Testicular Disorder of Sex Development
* GeneReviews / NCBI / NIH / UW entry on CATSPER-Related Male Infertility
GeneReviews and NCBI
* GeneReviews / NCBI / NIH / UW entry on Hemophilia A
* GeneReviews / NCBI / NIH / UW entry on Hemophilia B
* GeneReviews / NCBI / NIH / UW entry on PTEN Hamartoma Tumor
Syndrome ( PHTS )
* GeneReviews / NCBI / NIH / UW entry on 9q22. 3 Microdeletion
* GeneReviews / NCBI / NIH / UW entry on Prothrombin Thrombophilia
* GeneReviews / NCBI / NIH / UW entry on Alpha-Thalassemia
* GeneReviews / NCBI / NIH / UW entry on von Willebrand Disease
* GeneReviews / NCBI / NIH / UW entry on Kleefstra
Syndrome
* GeneReviews / NCBI / NIH / UW entry on Anophthalmia
/ Microphthalmia Overview
* GeneReviews / NCBI / NIH / UW entry on Primary Autosomal Recessive Microcephaly
* GeneReviews / NCBI / NIH / UW entry on Fanconi Anemia
* GeneReviews / NCBI / NIH / UW entry on ATP7A-Related Copper Transport Disorders
* GeneReviews / NCBI / NIH / UW entry on PTEN Hamartoma Tumor
Syndrome ( PHTS )
* GeneReviews / NCBI / NIH / UW entry on UMOD-Related Kidney Disease Includes: Familial Juvenile Hyperuricemic Nephropathy, Medullary Cystic Kidney Disease 2
* GeneReviews / NCBI / NIH / UW entry on Familial Juvenile Hyperuricemic Nephropathy Type 2
* GeneReviews / NCBI / NIH / UW entry on Aicardi-Goutières
Syndrome
GeneReviews and NIH
* GeneReviews / NIH / UW entry on Hereditary Paraganglioma-Pheochromocytoma Syndromes
GeneReviews and Syndrome
* GeneReviews / NCBI / NIH / UW entry on Mitochondrial DNA-Associated Leigh
Syndrome and NARP
* GeneReviews / NIH / NCBI / UW entry on Williams or Williams-Beuren
Syndrome
* GeneReviews / NCBI / NIH / UW entry on Kabuki syndrome, Kabuki Make-Up
Syndrome, Niikawa-Kuroki
Syndrome
* GeneReviews / NCBI / NIH / UW entry on Bloom
Syndrome
* GeneReviews / NCBI / NIH / UW entry on Pendred
Syndrome / DFNB4
* GeneReviews / NCBI / NIH / UW entry on Romano-Ward
Syndrome
* GeneReviews / NCBI / NIH / UW entry on Stickler
Syndrome
* GeneReviews / NIH / NCBI / UW entry on Romano-Ward
Syndrome
* GeneReviews / NCBI / NIH / UW entry on Autoimmune Lymphoproliferative
Syndrome
* GeneReviews / NCBI / NIH / UW entry on Androgen Insensitivity
Syndrome
* GeneReviews / NCBI / NIH / UW entry on Chediak-Higashi
Syndrome
* GeneReviews / NCBI / NIH / UW entry on Atypical Hemolytic-Uremic
Syndrome
* GeneReviews / NCBI / NIH / UW entry on PTEN Hamartoma Tumor
Syndrome ( PHTS )
/ and NCBI
* GeneReview
/ NCBI / NIH / UW entry on Oculocutaneous Albinism Type 2
* GeneReview
/ NCBI / NIH / UW entry on Oculocutaneous Albinism Type 4
* A search engine for exon
/ intron sequences defined by
NCBI
* GeneReview
/ NCBI / NIH / UW entry on Progressive Myoclonus Epilepsy, Lafora Type
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