Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Yvonne J Vos; Hermien E K de Walle; Krista K Bos; Jenneke A Stegeman; Annelies M ten Berge; Martijn Bruining; Merel C van Maarle; Mariet W Elting; Nicolette S den Hollander; Ben Hamel; Ana Maria Fortuna; Lone E M Sunde; Irene Stolte-Dijkstra; Connie T R M Schrander-Stumpel; Robert M W Hofstra

doi:10.1136/jmg.2009.071688

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Original article

Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

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	Abstract	Full	Pdf
Oct 2009	107	0	40
Nov 2009	62	0	35
Dec 2009	14	0	19
Jan 2010	52	0	19
Feb 2010	41	0	27
Mar 2010	190	25	53
Apr 2010	102	19	59
May 2010	42	26	33
Jun 2010	58	24	30
Jul 2010	24	7	19
Aug 2010	39	16	11
Sep 2010	28	19	22
Oct 2010	31	11	15
Nov 2010	26	11	16
Dec 2010	36	4	5
Jan 2011	44	12	9
Feb 2011	37	14	12
Mar 2011	38	12	13
Apr 2011	30	9	11
May 2011	27	10	14
Jun 2011	19	10	9
Jul 2011	33	14	12
Aug 2011	24	15	15
Sep 2011	24	11	11
Oct 2011	19	6	7
Nov 2011	33	10	12
Dec 2011	40	9	12
Jan 2012	34	9	8
Feb 2012	31	10	10
Mar 2012	24	8	7
Apr 2012	24	8	7
May 2012	26	8	4
Jun 2012	38	19	15
Jul 2012	32	11	12
Aug 2012	44	3	7
Sep 2012	31	6	7
Oct 2012	42	8	6
Nov 2012	22	3	3
Dec 2012	37	6	9
Jan 2013	66	8	7
Feb 2013	50	16	20
Mar 2013	48	8	11
Apr 2013	46	16	13
May 2013	52	12	10
Jun 2013	13	5	4
Jul 2013	18	6	9
Aug 2013	17	10	9
Sep 2013	16	9	7
Oct 2013	28	11	8
Nov 2013	31	8	13
Dec 2013	22	9	8
Jan 2014	15	6	8
Feb 2014	22	3	6
Mar 2014	24	3	8
Apr 2014	18	5	4
May 2014	18	10	10
Jun 2014	19	11	9
Jul 2014	24	5	6
Aug 2014	14	6	9
Sep 2014	14	18	11
Oct 2014	14	8	7
Nov 2014	6	5	6
Dec 2014	15	10	3
Jan 2015	30	8	7
Feb 2015	9	17	11
Mar 2015	24	6	3
Apr 2015	13	8	5
May 2015	21	10	11
Jun 2015	10	11	9
Jul 2015	15	10	9
Aug 2015	7	9	8
Sep 2015	21	9	5
Oct 2015	16	12	9
Nov 2015	13	18	11
Dec 2015	16	10	11
Jan 2016	32	12	13
Feb 2016	18	4	2
Mar 2016	15	6	4
Apr 2016	15	17	16
May 2016	5	10	3
Jun 2016	16	7	6
Jul 2016	18	8	5
Aug 2016	13	0	3
Sep 2016	10	7	7
Oct 2016	15	7	8
Nov 2016	21	5	5
Dec 2016	4	12	7
Jan 2017	9	3	2
Feb 2017	16	15	6
Mar 2017	24	8	8
Apr 2017	12	15	13
May 2017	32	10	7
Jun 2017	34	6	6
Jul 2017	56	15	9
Aug 2017	65	12	2
Sep 2017	47	7	2
Oct 2017	39	7	7
Nov 2017	81	21	15
Dec 2017	78	8	6
Jan 2018	84	10	10
Feb 2018	89	11	9
Mar 2018	83	7	4
Apr 2018	48	12	4
May 2018	62	11	6
Jun 2018	48	10	6
Jul 2018	57	8	4
Aug 2018	49	5	3
Sep 2018	77	8	7
Oct 2018	78	6	3
Nov 2018	57	6	4
Dec 2018	60	4	4
Jan 2019	103	18	8
Feb 2019	84	6	3
Mar 2019	98	12	10
Apr 2019	64	7	3
May 2019	51	9	6
Jun 2019	71	7	5
Jul 2019	106	14	9
Aug 2019	64	3	3
Sep 2019	68	15	6
Oct 2019	72	13	7
Nov 2019	47	8	3
Dec 2019	39	5	7
Jan 2020	69	3	4
Feb 2020	65	15	7
Mar 2020	64	10	7
Apr 2020	65	13	10
May 2020	58	4	4
Jun 2020	43	9	4
Jul 2020	41	7	4
Aug 2020	65	9	5
Sep 2020	106	15	22
Oct 2020	56	13	5
Nov 2020	42	4	0
Dec 2020	79	5	2
Jan 2021	73	13	12
Feb 2021	63	6	7
Mar 2021	45	3	1
Apr 2021	52	8	8
May 2021	21	3	4
Jun 2021	13	10	8
Jul 2021	8	6	6
Aug 2021	6	5	5
Sep 2021	8	7	4
Oct 2021	76	8	7
Nov 2021	136	5	3
Dec 2021	56	2	3
Jan 2022	75	11	10
Feb 2022	52	8	3
Mar 2022	175	14	7
Apr 2022	100	5	6
May 2022	84	8	7
Jun 2022	245	9	4
Jul 2022	95	7	5
Aug 2022	154	15	7
Sep 2022	107	12	3
Oct 2022	109	6	6
Nov 2022	80	7	3
Dec 2022	80	8	6
Jan 2023	133	10	5
Feb 2023	97	6	2
Mar 2023	74	7	5
Apr 2023	58	11	7
May 2023	39	2	6
Jun 2023	75	17	7
Jul 2023	85	8	8
Aug 2023	82	8	4
Sep 2023	79	7	4
Oct 2023	84	4	3
Nov 2023	53	4	3
Dec 2023	45	2	4
Jan 2024	96	6	14
Feb 2024	190	14	10
Mar 2024	100	24	3
Total	8700	1589	1530

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