These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
23. Recurrence of holoprosencephaly in families with a positive history. Benke PJ; Cohen MM Clin Genet; 1983 Nov; 24(5):324-8. PubMed ID: 6652942 [TBL] [Abstract][Full Text] [Related]
24. [Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene]. Ronco P; Plaisier E Bull Acad Natl Med; 2008 May; 192(5):971-84; discussion 984-6. PubMed ID: 19238787 [TBL] [Abstract][Full Text] [Related]
25. [The Robinow syndrome: a report of a family with autosomal dominant transmission]. Díaz López MT; Lorenzo Sanz G; Quintana Castilla A; Esteve de Pablo C; Aparicio Meix JM An Esp Pediatr; 1996 May; 44(5):520-3. PubMed ID: 8928981 [No Abstract] [Full Text] [Related]
26. A firstborn child with multiple anomalies. Zorn E Hosp Pract (Off Ed); 1984 Oct; 19(10):119, 122. PubMed ID: 6434553 [No Abstract] [Full Text] [Related]
27. Mechanism of injury in uromodulin-associated kidney disease. Kumar S J Am Soc Nephrol; 2007 Jan; 18(1):10-2. PubMed ID: 17182881 [No Abstract] [Full Text] [Related]
28. New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis. Giuffrè L; Corsello G; Giuffrè M; Piccione M; Albanese A Am J Med Genet; 1994 Jul; 51(3):266-9. PubMed ID: 8074157 [TBL] [Abstract][Full Text] [Related]
29. Familial crossed polysyndactyly. Goldstein DJ; Kambouris M; Ward RE Am J Med Genet; 1994 Apr; 50(3):215-23. PubMed ID: 8042663 [TBL] [Abstract][Full Text] [Related]
30. Autosomal dominant Weill-Marchesani syndrome and glaucoma management. Saricaoglu MS; Sengun A; Karakurt A; Colluoglu Z Saudi Med J; 2005 Sep; 26(9):1468-9. PubMed ID: 16155673 [No Abstract] [Full Text] [Related]
31. [Complex cystic dysmorphosis of the umbilicus associated with dysmelia of the upper limbs, rachischisis and horse-shoe kidney]. Lodi R; Zagnoli P; De Maria D Arch Ital Urol Nefrol; 1967 Jun; 39(4):288-319. PubMed ID: 5611072 [No Abstract] [Full Text] [Related]
32. New syndrome: exostoses, anetodermia, brachydactyly. Mollica F; Li Volti S; Guarneri B Am J Med Genet; 1984 Dec; 19(4):665-7. PubMed ID: 6334993 [No Abstract] [Full Text] [Related]
33. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Frank V; den Hollander AI; Brüchle NO; Zonneveld MN; Nürnberg G; Becker C; Du Bois G; Kendziorra H; Roosing S; Senderek J; Nürnberg P; Cremers FP; Zerres K; Bergmann C Hum Mutat; 2008 Jan; 29(1):45-52. PubMed ID: 17705300 [TBL] [Abstract][Full Text] [Related]
34. Morphology of cystic renal lesions. Lectin and immuno-histochemical study. Kovács J; Zilahy M; Gomba S Acta Chir Hung; 1997; 36(1-4):176-8. PubMed ID: 9408336 [TBL] [Abstract][Full Text] [Related]
35. A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. Parke JT; Riccardi VM; Lewis RA; Ferrell RE Am J Med Genet; 1984 Mar; 17(3):585-94. PubMed ID: 6711609 [TBL] [Abstract][Full Text] [Related]
36. [Association of VACTERL and hydrocephalus: a new familial entity]. Briard ML; le Merrer M; Plauchu H; Dodinval P; Lambotte C; Moraine C; Serville F Ann Genet; 1984; 27(4):220-3. PubMed ID: 6335367 [TBL] [Abstract][Full Text] [Related]
37. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family. Sadler LS; Robinson LK Am J Med Genet; 1993 Aug; 47(1):65-8. PubMed ID: 8368255 [TBL] [Abstract][Full Text] [Related]
38. An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema. Schmitt E; Gillenwater JY; Kelly TE Am J Med Genet; 1982 Sep; 13(1):63-9. PubMed ID: 7137222 [TBL] [Abstract][Full Text] [Related]
39. Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias. Guttmacher AE Am J Med Genet; 1993 Apr; 46(2):219-22. PubMed ID: 8484413 [TBL] [Abstract][Full Text] [Related]
40. Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations. Aslan Y; Erduran E; Mocan H; Yildiran A; Okten A; Gedik Y Genet Couns; 1997; 8(3):241-8. PubMed ID: 9327269 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]