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69. Congenital vocal cord paralysis with possible autosomal recessive inheritance: case report and review of the literature. Koppel R; Friedman S; Fallet S Am J Med Genet; 1996 Aug; 64(3):485-7. PubMed ID: 8862626 [TBL] [Abstract][Full Text] [Related]
70. Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease. Stavarachi M; Toma M; Butoianu N; Gavrila L Genet Test Mol Biomarkers; 2009 Dec; 13(6):821-4. PubMed ID: 19839757 [TBL] [Abstract][Full Text] [Related]
72. Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA. MacKenzie A; Besner A; Roy N J Med Genet; 1993 Feb; 30(2):162-3. PubMed ID: 8445624 [No Abstract] [Full Text] [Related]
73. [The gene of spinal muscular atrophy localized. Possibilities for prenatal diagnosis]. Blennow ES; Bui TH; Söderhäll S; Anvret M; Nordenskjöld M Lakartidningen; 1993 Jan; 90(4):269-75. PubMed ID: 8433608 [No Abstract] [Full Text] [Related]
74. Preserved umbilical cord facilitates antenatal diagnosis of spinal muscular atrophy. Kabra M; Arora S; Maria A; Aggarwal R Indian Pediatr; 2003 May; 40(5):415-8. PubMed ID: 12768044 [TBL] [Abstract][Full Text] [Related]
75. HISTOCHEMISTRY OF MUSCLE IN INFANTILE SPINAL MUSCULAR ATROPHY. FENICHEL GM; ENGEL WK Neurology; 1963 Dec; 13():1059-66. PubMed ID: 14134179 [No Abstract] [Full Text] [Related]
76. [Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies]. Melki J; Lefebvre S; Burglen L; Burlet P; Clermont O; Millasseau P; Reboulet S; Benichou B; Zeviani M; Le Paslier D C R Seances Soc Biol Fil; 1994; 188(5-6):495-8. PubMed ID: 7780792 [TBL] [Abstract][Full Text] [Related]
77. Spinal muscular atrophy of childhood: genetics. Raymond FL Dev Med Child Neurol; 1997 Jun; 39(6):419-20. PubMed ID: 9233369 [No Abstract] [Full Text] [Related]
78. Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients. Bradinova I; Andonova S; Vazharova R; Tomova S; Balabanski L; Savov A Clin Genet; 2022 Jul; 102(1):78-79. PubMed ID: 35338657 [No Abstract] [Full Text] [Related]
79. TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. Ikeda T; Nakahara A; Nagano R; Utoyama M; Obara M; Moritake H; Uechi T; Mitsui J; Ishiura H; Yoshimura J; Doi K; Kenmochi N; Morishita S; Nishino I; Tsuji S; Nunoi H J Hum Genet; 2017 Apr; 62(4):473-480. PubMed ID: 27928163 [TBL] [Abstract][Full Text] [Related]
80. Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. Rudnik-Schöneborn S; Röhrig D; Morgan G; Wirth B; Zerres K Am J Med Genet; 1994 May; 51(1):70-6. PubMed ID: 8030672 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]