| 000 | 02363 a2200793 4500 | ||
|---|---|---|---|
| 005 | 20250516223653.0 | ||
| 264 | 0 | _c20150609 | |
| 008 | 201506s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22617 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMakrythanasis, Periklis | |
| 245 | 0 | 0 |
_aDiagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. _h[electronic resource] |
| 260 |
_bHuman mutation _cOct 2014 |
||
| 300 |
_a1203-10 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aArabs |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenes, Recessive _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aRare Diseases _xdiagnosis |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aNelis, Mari | |
| 700 | 1 | _aSantoni, Federico A | |
| 700 | 1 | _aGuipponi, Michel | |
| 700 | 1 | _aVannier, Anne | |
| 700 | 1 | _aBéna, Frédérique | |
| 700 | 1 | _aGimelli, Stefania | |
| 700 | 1 | _aStathaki, Elisavet | |
| 700 | 1 | _aTemtamy, Samia | |
| 700 | 1 | _aMégarbané, André | |
| 700 | 1 | _aMasri, Amira | |
| 700 | 1 | _aAglan, Mona S | |
| 700 | 1 | _aZaki, Maha S | |
| 700 | 1 | _aBottani, Armand | |
| 700 | 1 | _aFokstuen, Siv | |
| 700 | 1 | _aGwanmesia, Lorraine | |
| 700 | 1 | _aAliferis, Konstantinos | |
| 700 | 1 | _aBustamante Eduardo, Mariana | |
| 700 | 1 | _aStamoulis, Georgios | |
| 700 | 1 | _aPsoni, Stavroula | |
| 700 | 1 | _aKitsiou-Tzeli, Sofia | |
| 700 | 1 | _aFryssira, Helen | |
| 700 | 1 | _aKanavakis, Emmanouil | |
| 700 | 1 | _aAl-Allawi, Nasir | |
| 700 | 1 | _aSefiani, Abdelaziz | |
| 700 | 1 | _aAl Hait, Sana' | |
| 700 | 1 | _aElalaoui, Siham C | |
| 700 | 1 | _aJalkh, Nadine | |
| 700 | 1 | _aAl-Gazali, Lihadh | |
| 700 | 1 | _aAl-Jasmi, Fatma | |
| 700 | 1 | _aBouhamed, Habiba Chaabouni | |
| 700 | 1 | _aAbdalla, Ebtesam | |
| 700 | 1 | _aCooper, David N | |
| 700 | 1 | _aHamamy, Hanan | |
| 700 | 1 | _aAntonarakis, Stylianos E | |
| 773 | 0 |
_tHuman mutation _gvol. 35 _gno. 10 _gp. 1203-10 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22617 _zAvailable from publisher's website |
| 999 |
_c24026218 _d24026218 |
||