Results
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3781.
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3782.
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A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. [electronic resource] by
- Marangi, Giuseppe
- Di Giacomo, Marilena C
- Lattante, Serena
- Orteschi, Daniela
- Patrizi, Sara
- Doronzio, Paolo N
- Riviello, Francesco N
- Vaisfeld, Alessandro
- Frangella, Silvia
- Zollino, Marcella
Producer: 20190111
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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3789.
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3790.
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Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. [electronic resource] by
- Schönfelder, Eva-Maria
- Knüppel, Tanja
- Tasic, Velibor
- Miljkovic, Predrag
- Konrad, Martin
- Wühl, Elke
- Antignac, Corinne
- Bakkaloglu, Aysin
- Schaefer, Franz
- Weber, Stefanie
Producer: 20060609
In:
American journal of kidney diseases : the official journal of the National Kidney Foundation vol. 47
Availability: No items available.
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3791.
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3792.
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3793.
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3794.
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Multimodal Eph/Ephrin signaling controls several phases of urogenital development. [electronic resource] by
- Peuckert, Christiane
- Aresh, Bejan
- Holenya, Pavlo
- Adams, Derek
- Sreedharan, Smitha
- Porthin, Annika
- Andersson, Louise
- Pettersson, Hanna
- Wölfl, Stefan
- Klein, Rüdiger
- Oxburgh, Leif
- Kullander, Klas
Producer: 20171003
In:
Kidney international vol. 90
Availability: No items available.
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3795.
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3796.
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3797.
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3799.
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3800.
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Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23. [electronic resource] by
- Hoischen, Alexander
- Landwehr, Christina
- Kabisch, Sarah
- Ding, Xiao-Qi
- Trost, Detlef
- Stropahl, Gerhard
- Wigger, Marianne
- Radlwimmer, Bernhard
- Weber, Ruthild G
- Haffner, Dieter
Producer: 20091008
In:
Pediatric nephrology (Berlin, Germany) vol. 24
Availability: No items available.
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