Biallelic GALM pathogenic variants cause a novel type of galactosemia
- 期刊名称Genetics in Medicine
- 作者Wada, Yoichi; Kikuchi, Atsuo; Arai-Ichinoi, Natsuko; Sakamoto, Osamu; Takezawa, Yusuke; Iwasawa, Shinya; Niihori, Tetsuya; Nyuzuki, Hiromi; Nakajima, Yoko; Ogawa, Erika; Ishige, Mika; Hirai, Hiroki; Sasai, Hideo; Fujiki, Ryoji; Shirota, Matsuyuki; Funayama, Ryo; Yamamoto, Masayuki; Ito, Tetsuya; Ohara, Osamu; Nakayama, Keiko; Aoki, Yoko; Koshiba, Seizo; Fukao, Toshiyuki; Kure, Shigeo
- 印刷ISSN1098-3600
- 电子ISSN1530-0366
- 文件大小634.31KB
- 发表时间2018-10-19
- DOI10.1038/s41436-018-0340-x
SHORT NOTESWINTERBOTTOM, J. M.; SKEAD, C. J.; HART, John A.; MYBURGH, N.; BROEKHUYSEN, G. J.; MARTIN, J. E.; MARTIN, R.; MYBURGH, N.; MYBURGH, E.; BROEKHUYSEN, G. J.; LOWDEN STOOLE, E. W.; DOWSETT, R. J.; DOWSETT, R. J.; DOWSETT, R. J.; VERNON, C. J.; VERNON, C. J.; BROOKE, R. K.; BRAINE, S. G.; BRAINE, J. W.S.; DOWSETT, R. J.; LOWDEN STOOLE, E. W.; WOODALL, P. F.; CLANCEY, P. A. · Ostrich · 1971
Sectional notesH. G. Zuckerman; C. H. Metzger; E. R. Bennett; W. B. Ward; John S. Gardner; E. L. Newdick; Ralph W. Donaldson; H. C. Moore; E. E. Isaac; William H. Martin; J. R. Livermore; Karl H. Fernow; R. C. Hastings; J. B. R. Dickey · 1934
Untersuchung von Milch- und MilchproduktenRaluca Ripan-Tilici; C. Drâgulescu; W. D. Kooper; M. v. Dungern; G. Nelz; J. W. E. Harrisson; G. D. Elsdon; J. R. Stubbs; H. J. Evans; H. A. Williams; I. W. Blood; A. Rowlands; W. Leithe; Erika Müller; R. Turnau; H. Kluge; H. Barkworth; J. F. Phelan; E. Kuhn; E. Zapatero; J. E. Jacobsen; J. Müller; Ch. F. Poe; R. R. Schafer; Elisée Tchetcheroff; F. H. Mc Dowall; R. M. Dolby; T. St. G. Jones; M. Somogyi; A. K. R. Mc Dowell; L. H. Lampitt; H. S. Rooke; A. Burr; H. Schlag; E. Kollstede; L. K. Lapinski; J. M. Clavera; F. Moreno-Martin; M. Polonovksi; F. Martin; W. Ritter; R. J. Mc Ilroy; G. Schwarz; O. Fischer; H. Stotz; D. H. Jacobsen; M. Déribéré; M. H. French; W. D. Raymond; E. C. Thompson; R. S. Fleming; S. L. Tuckey; L. Buruiana · 1937
[Proceedings]Eugene P. Odum, Stanley I. Auerbach, A. Lex Evans, Peter Frank, Forest Stearns, Paul Martin, Arthur D. Hasler, John E. Cantlon, Stanley Cain, LaMont C. Cole, William A. Niering, Alton A. Lindsey, H. J. Oosting, R. W. Kelting, A. C. Hodson, F. John Vernberg, William E. Martin, Kenneth R. John, G. M. Woodwell, John F. Reed, George Sprugel Jr., Frank F. Hooper, F. R. Fosberg, H. G. Baker, Gerald E. Gunning, John A. King, William A. Dreyer and S. I. Auerbach · Bulletin of the Ecological Society of America · 1966
Book reviewsMartin Bechmann; D. E. Pitfield; D. R. F. Taylor; Noel D. Uri; Parzival Copes; Wilbur A. Steger; Harry W. Richardson; Brenton M. Barr; Rudolf Andorka; James Heilbrun; David F. Batten; Blanche Fitzpatrick; Fernand Martin; B. L. Dillman; Theodore Shadbad; T. Y. Shen; Leonard P. Apedaile; Charles G. Schmidt; Neil S. Grigg; Khaw Hock Pang; John M. Clapp; Andrew A. Dzurik; John E. Keith; Michael Whitbread; Douglas N. Jones; Harold Brodsky; Ronald R. Boyce; David L. Chicoine; Daniel E. Chappelle; Joseph Alexander; Richard W. Hoyt; J. Barry Riddell; John A. Schofield; John R. McGregory; Anthony H. Stocks; John P. Huttman; Robert G. Fletcher; R. Scott Frey; Richard T. Dailey · 1984
Sectional notesH. W. Poulsen; H. G. Zuckerman; C. H. Metzger; W. B. Ward; W. C. Edmundson; E. R. Bennet; R. A. Jehle; A. B. Beaumont; John S. Gardner; E. L. Newdick; Frank W. Hussey; E. J. Wheeler; H. C. Moore; Marx Koehnke; A. G. Tolaas; E. E. Isaac; H. O. Werner; O. Butler; William H. Martin; K. H. Fernow; E. R. Jackman; E. B. Tussing; E. V. Hardenburg; J. B. R. Dickey; K. H. Klages; G. S. Ralston; H. L. Bailey; John Tucker · 1934
EinzelbesprechungenO. Lange; K. H. Stephans; J. Tinbergen; K. Bode; W. Röpke; F. Martin; R. Kamitz; A. Mahr; E. Preiser; R. Stucken; O. Frh. v. Mering; E. Kauder; E. Fossati; P. Mombert; E. Egner; E. S. Mason; K. Forchheimer; F. Engel-Janosi; M. Lederer · 1935
Sectional notesH. G. Zuckerman; C. H. Metzger; B. A. Brown; W. B. Ward; Frank W. Hussey; R. W. Donaldson; E. E. Isaac; Marx Koehnke; William H. Martin; K. H. Fernow; E. V. Hardenburg; Robert Schmidt; E. M. Gillig; E. B. Tussing; E. R. Jackman; T. E. Odland; S. P. Swenson; John Tucker · 1936
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