| 000 | 03081 a2200985 4500 | ||
|---|---|---|---|
| 005 | 20250518060512.0 | ||
| 264 | 0 | _c20200402 | |
| 008 | 202004s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2019.08.006 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMagini, Pamela | |
| 245 | 0 | 0 |
_aLoss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c10 2019 |
||
| 300 |
_a689-705 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aArthrogryposis _xgenetics |
| 650 | 0 | 4 | _aCell Lineage |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aEndoplasmic Reticulum _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression Profiling |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMitosis |
| 650 | 0 | 4 |
_aNeurodevelopmental Disorders _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 |
_aSphingomyelin Phosphodiesterase _xgenetics |
| 700 | 1 | _aSmits, Daphne J | |
| 700 | 1 | _aVandervore, Laura | |
| 700 | 1 | _aSchot, Rachel | |
| 700 | 1 | _aColumbaro, Marta | |
| 700 | 1 | _aKasteleijn, Esmee | |
| 700 | 1 | _avan der Ent, Mees | |
| 700 | 1 | _aPalombo, Flavia | |
| 700 | 1 | _aLequin, Maarten H | |
| 700 | 1 | _aDremmen, Marjolein | |
| 700 | 1 | _ade Wit, Marie Claire Y | |
| 700 | 1 | _aSeverino, Mariasavina | |
| 700 | 1 | _aDivizia, Maria Teresa | |
| 700 | 1 | _aStriano, Pasquale | |
| 700 | 1 | _aOrdonez-Herrera, Natalia | |
| 700 | 1 | _aAlhashem, Amal | |
| 700 | 1 | _aAl Fares, Ahmed | |
| 700 | 1 | _aAl Ghamdi, Malak | |
| 700 | 1 | _aRolfs, Arndt | |
| 700 | 1 | _aBauer, Peter | |
| 700 | 1 | _aDemmers, Jeroen | |
| 700 | 1 | _aVerheijen, Frans W | |
| 700 | 1 | _aWilke, Martina | |
| 700 | 1 | _avan Slegtenhorst, Marjon | |
| 700 | 1 | _avan der Spek, Peter J | |
| 700 | 1 | _aSeri, Marco | |
| 700 | 1 | _aJansen, Anna C | |
| 700 | 1 | _aStottmann, Rolf W | |
| 700 | 1 | _aHufnagel, Robert B | |
| 700 | 1 | _aHopkin, Robert J | |
| 700 | 1 | _aAljeaid, Deema | |
| 700 | 1 | _aWiszniewski, Wojciech | |
| 700 | 1 | _aGawlinski, Pawel | |
| 700 | 1 | _aLaure-Kamionowska, Milena | |
| 700 | 1 | _aAlkuraya, Fowzan S | |
| 700 | 1 | _aAkleh, Hanah | |
| 700 | 1 | _aStanley, Valentina | |
| 700 | 1 | _aMusaev, Damir | |
| 700 | 1 | _aGleeson, Joseph G | |
| 700 | 1 | _aZaki, Maha S | |
| 700 | 1 | _aBrunetti-Pierri, Nicola | |
| 700 | 1 | _aCappuccio, Gerarda | |
| 700 | 1 | _aDavidov, Bella | |
| 700 | 1 | _aBasel-Salmon, Lina | |
| 700 | 1 | _aBazak, Lily | |
| 700 | 1 | _aShahar, Noa Ruhrman | |
| 700 | 1 | _aBertoli-Avella, Aida | |
| 700 | 1 | _aMirzaa, Ghayda M | |
| 700 | 1 | _aDobyns, William B | |
| 700 | 1 | _aPippucci, Tommaso | |
| 700 | 1 | _aFornerod, Maarten | |
| 700 | 1 | _aMancini, Grazia M S | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 105 _gno. 4 _gp. 689-705 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2019.08.006 _zAvailable from publisher's website |
| 999 |
_c30086923 _d30086923 |
||